952:
218:
1057:
138:
3739:
2075:
1297:
result from a lower percentage of mitochondria with the mutation, typically 70 percent to 90 percent. Because these two conditions result from the same genetic changes and can occur in different members of a single family, researchers believe that they may represent a spectrum of overlapping features
2138:
Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y (March 2016). "Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8
1637:
A condition called familial bilateral striatal necrosis, which is similar to Leigh syndrome, can also result from changes in the MT-ATP6 gene. In the few reported cases with these mutations, affected children have had delayed development, problems with movement and coordination, weak muscle tone
2746:
Reuter TY, Medhurst AL, Waisfisz Q, Zhi Y, Herterich S, Hoehn H, Gross HJ, Joenje H, Hoatlin ME, Mathew CG, Huber PA (October 2003). "Yeast two-hybrid screens imply involvement of
Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport".
1553:
because of decreased energy available in the cell. Certain tissues that require large amounts of energy, such as the brain, muscles, and heart, seem especially sensitive to decreases in cellular energy. Cell death in the brain likely causes the characteristic changes in the brain seen in Leigh
1629:, reducing the ability of mitochondria to produce ATP. Although the precise effects of these mutations are unclear, researchers continue to investigate how changes in the MT-ATP6 gene interfere with ATP production and lead to muscle weakness, vision loss, and the other features of NARP.
2174:
Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ (May 2009). "Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes".
2092:
Jackson CB, Hahn D, Schröter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A (June 2017). "A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy".
1366:, developmental delay and intellectual disability have been observed in patients with a frameshift mutation in MT-ATP6. This causes a C insertion at position 8612 that results in a truncated protein only 36 amino acids long, and two T > C
1772:
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome".
1868:
Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013).
1413:. Individuals with mitochondrial complex V deficiency may also have a characteristic pattern of facial features, including a high forehead, curved eyebrows, outside corners of the eyes that point downward (downslanting
2806:
Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ (June 2004). "Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in
Caucasians".
2776:
Dubot A, Godinot C, Dumur V, Sablonnière B, Stojkovic T, Cuisset JM, Vojtiskova A, Pecina P, Jesina P, Houstek J (January 2004). "GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene".
1229:
c-ring, which in turn is driven by the flux of protons through the membrane via the interface between the F0 c-ring and subunit A. The peripheral stalk links subunit A to the external surface of the F
1598:, with 97% of the patient's muscle and blood samples reflecting the mutation. The T9191C mutation presented a much more severe phenotype that resulted in the death of the patient at 2 years of age.
2500:
Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwong JQ, Guy J, Schon EA (April 2002). "Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus".
2016:
Carbajo RJ, Kellas FA, Runswick MJ, Montgomery MG, Walker JE, Neuhaus D (August 2005). "Structure of the F1-binding domain of the stator of bovine F1Fo-ATPase and how it binds an alpha-subunit".
1175:
region of ATP synthase is a proton pore that is embedded in the mitochondrial membrane. It consists of three main subunits A, B, and C, and (in humans) six additional subunits,
1938:"Partial resolution of the enzymes catalyzing oxidative phosphorylation. 8. Properties of a factor conferring oligomycin sensitivity on mitochondrial adenosine triphosphatase"
1293:
due to a MT-ATP6 gene mutation tend to have a very high percentage of mitochondria with the mutation (from more than 90 percent to 95 percent). The less-severe features of
2931:
1554:
syndrome, which contribute to the signs and symptoms of the condition. Cell death in other sensitive tissues may also contribute to the features of Leigh syndrome. A
1028:, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called
2572:
Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (January 2003).
1607:
1294:
1278:
3717:
3412:
1221:
This subunit is a key component of the proton channel, and may play a direct role in the translocation of protons across the membrane. Catalysis in the F
1646:). Researchers have not determined why MT-ATP6 mutations result in this combination of signs and symptoms in children with bilateral striatal necrosis.
698:
679:
99:
3407:
1326:. The disorder can be life-threatening in infancy or early childhood. Affected individuals may have feeding problems, slow growth, low muscle tone (
3498:
3080:
1521:
of the aforementioned mitochondrial genes, including MT-ATP6. MT-ATP6 gene mutations associated with Leigh syndrome change one DNA building block (
1485:, which is characterized by an onset of symptoms between 12 months and three years of age. The symptoms frequently present themselves following a
3166:
1266:
1754:
2975:
1736:
2924:
2237:
Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E (October 2005). "Two new mutations in the MTATP6 gene associated with Leigh syndrome".
1437:, muscle weakness, problems with movement, or difficulty breathing. Other variants known to cause mtDNA-associated Leigh syndrome involve
1397:
genes and has been described in multiple patients with infantile cardiomyopathy. This mutation changes the initiation codon in MT-ATP6 to
217:
2338:
Boominathan A, Vanhoozer S, Basisty N, Powers K, Crampton AL, Wang X, Friedricks N, Schilling B, Brand MD, O'Connor MS (November 2016).
1606:
Some of the mutations of the ATP6 gene that cause Leigh syndrome are also responsible for a similar, but less severe, condition called
3759:
3266:
3201:
1610:(NARP). A small number of mutations in the MT-ATP6 gene have been identified in people with NARP. Each of these mutations changes one
1140:, which consists of 14 nuclear- and 2 mitochondrial-encoded subunits. As an A subunit, MT-ATP6 is contained within the non-catalytic,
2713:"Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria"
965:. For each nucleotide triplet (square brackets), the corresponding amino acid is given (one-letter code), either in the +3 frame for
3211:
3036:
3537:
3335:
2970:
137:
2537:
Torigoe T, Izumi H, Ishiguchi H, Uramoto H, Murakami T, Ise T, Yoshida Y, Tanabe M, Nomoto M, Itoh H, Kohno K (September 2002).
2455:
Ingman M, Kaessmann H, Pääbo S, Gyllensten U (December 2000). "Mitochondrial genome variation and the origin of modern humans".
1655:
3764:
3704:
3532:
3196:
2917:
1723:
1702:
1367:
2222:. In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong CT, Smith RJ, Stephens K (eds.).
3527:
3313:
3271:
2272:
Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G (July 2007).
892:
1719:
899:
951:
3729:
1698:
3117:
3059:
2949:
79:
2711:
Temperley RJ, Seneca SH, Tonska K, Bartnik E, Bindoff LA, Lightowlers RN, Chrzanowska-Lightowlers ZM (September 2003).
3171:
2426:
Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ (June 2006). "Harvesting the fruit of the human mtDNA tree".
1378:
2313:
1433:, a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience
3345:
3340:
3144:
3010:
1549:. Although the exact mechanism is unclear, researchers believe that impaired oxidative phosphorylation can lead to
3070:
1546:
1289:
is associated with the percentage of mitochondria in each cell that has a particular genetic change. People with
1254:
1013:
151:
3261:
3139:
2903:
1671:
1659:
1434:
1335:
1311:
1017:
743:
87:
1076:
gene provides information for making a protein that is essential for normal mitochondrial function. The human
2539:"Enhanced expression of the human vacuolar H+-ATPase c subunit gene (ATP6L) in response to anticancer agents"
3308:
3095:
2391:
Holme E, Greter J, Jacobson CE, Larsson NG, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M (December 1992).
1614:
in the MT-ATP6 gene. As in Leigh syndrome, the most common genetic change associated with NARP replaces the
724:
2844:
Carrozzo R, Rizza T, Stringaro A, Pierini R, Mormone E, Santorelli FM, Malorni W, Matarrese P (July 2004).
1056:
3303:
2960:
1542:
1033:
3677:
3417:
3293:
3129:
3107:
1490:
1450:
1286:
1029:
2056:
1625:
at position 8993 (written as T8993G). The mutations that cause NARP alter the structure or function of
3518:
3424:
3281:
3230:
3176:
2585:
2464:
1782:
1675:
1163:(written as a subscript letter "o", not "zero") derives its name from being the binding fraction for
2899:
66:
1506:
1200:
2627:"Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines"
3448:
3216:
3090:
2875:
2832:
2525:
2488:
2200:
1806:
1414:
989:
111:
2846:"Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis"
875:
1354:) can also occur in affected individuals, and in some cases result in abnormal brain function (
3438:
3241:
3022:
2867:
2824:
2794:
2764:
2734:
2699:
2656:
2613:
2560:
2517:
2480:
2443:
2414:
2369:
2295:
2254:
2192:
2156:
2120:
2033:
1998:
1959:
1900:
1798:
1575:
1502:
1481:. Abnormalities in mitochondrial energy generation result in neurodegenerative disorders like
1282:
1281:. Most of the body's cells contain thousands of mitochondria, each with one or more copies of
1258:
1205:
1081:
992:
with the full name 'mitochondrially encoded ATP synthase membrane subunit 6' that encodes the
59:
3251:
3044:
2857:
2816:
2786:
2756:
2724:
2689:
2681:
2646:
2638:
2603:
2593:
2550:
2509:
2472:
2435:
2404:
2359:
2351:
2285:
2246:
2184:
2148:
2110:
2102:
2025:
1990:
1949:
1890:
1882:
1790:
1196:
310:
241:
208:
163:
3156:
3049:
1518:
1510:
1486:
1429:
Pathogenic variants of the mitochondrial gene MT-ATP6 are known to cause mtDNA-associated
1343:
285:
107:
2589:
2468:
2340:"Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant"
2274:"Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993"
1786:
1558:
T→C MT-ATP6 mutation at position 9185 results in the substitution of a highly conserved
1233:
domain, and is thought to act as a stator to counter the tendency of subunit A and the F
3743:
2694:
2669:
2364:
2339:
1895:
1870:
1534:
1514:
1482:
1430:
1386:
1355:
1351:
1319:
1290:
1274:
1262:
1045:
2760:
2651:
2626:
2608:
2573:
1954:
1937:
1012:. This enzyme, which is also known as complex V, is responsible for the final step of
613:
608:
603:
598:
593:
588:
583:
567:
562:
557:
552:
547:
542:
537:
521:
516:
511:
506:
501:
3753:
3721:
2940:
2895:
GeneReviews/NCBI/NIH/UW entry on
Mitochondrial DNA-Associated Leigh Syndrome and NARP
2862:
2845:
2670:"Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences"
2409:
2392:
2079:
1918:
1871:"Integration of cardiac proteome biology and medicine by a specialized knowledgebase"
1571:
1555:
1390:
1306:
Mitochondrial complex V deficiency is a shortage (deficiency) or loss of function in
1141:
488:
2879:
2529:
2492:
2204:
3573:
3548:
3206:
3085:
2998:
2836:
2393:"Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria"
1810:
1643:
1626:
1538:
1418:
1363:
1346:), which can cause nausea, vomiting, weakness, and rapid breathing. High levels of
1315:
1152:
1096:
1009:
303:
128:
1978:
1886:
91:
2290:
2273:
2152:
955:
The 46-nucleotide overlap in the reading frames of the human mitochondrial genes
115:
1759:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1741:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1587:
1393:. The m.8528T>C mutation occurs in the overlapping region of the MT-ATP6 and
1382:
1339:
1125:
3738:
2790:
2578:
Proceedings of the
National Academy of Sciences of the United States of America
2106:
386:
3325:
2987:
2894:
2820:
2439:
2029:
1615:
1611:
1550:
1525:) in the MT-ATP6 gene. The most common genetic change replaces the nucleotide
1522:
1498:
1417:), a prominent bridge of the nose, low-set ears, thin lips, and a small chin (
1402:
1164:
1118:
1093:
1085:
225:
145:
95:
2219:
3256:
2598:
2188:
1639:
1595:
1591:
1517:
is a maternally inherited disorder and its diagnosis is established through
1494:
1398:
1327:
1307:
1137:
1037:
643:
446:
324:
269:
256:
191:
178:
103:
27:
Mitochondrial protein-coding gene whose product is involved in ATP synthesis
2871:
2828:
2798:
2768:
2738:
2703:
2660:
2617:
2564:
2555:
2538:
2521:
2484:
2447:
2373:
2299:
2258:
2196:
2160:
2124:
2037:
1904:
2418:
2250:
2002:
1994:
1963:
1802:
939:
3402:
3276:
2909:
2729:
2712:
2355:
1854:
1406:
1371:
1331:
923:
788:
769:
31:
2115:
934:
3562:
3477:
2668:
Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP (September 2003).
1658:
including 17 co-complex interactions. MT-ATP6 appears to interact with
1622:
1618:
1583:
1579:
1563:
1559:
1530:
1526:
1410:
1394:
1347:
1192:
1105:
1025:
961:
755:
710:
2642:
1833:
1209:
1167:, a type of naturally-derived antibiotic that is able to inhibit the F
1044:
gene have been found in approximately 10 to 20 percent of people with
1020:. Specifically, one segment of ATP synthase allows positively charged
3667:
3662:
3632:
3627:
3507:
3487:
3482:
3472:
3467:
3462:
3457:
2476:
1794:
1478:
1474:
1470:
1466:
1462:
1458:
1454:
1438:
1359:
1184:
1100:
907:
665:
35:
17:
2685:
1269:(LHON), mitochondrial encephalomyopathy with stroke-like episodes (
3687:
3682:
3672:
3657:
3652:
3647:
3642:
3637:
3622:
3617:
3612:
3607:
3602:
3597:
3592:
3587:
3582:
3378:
3365:
2513:
1567:
1446:
1442:
1323:
1270:
1188:
1180:
1176:
1055:
2078:
This article incorporates text from this source, which is in the
1678:
of replacement DNA for the MT-ATP6 gene in the cell nuclear DNA.
628:
624:
1377:
Another common feature of mitochondrial complex V deficiency is
1318:
affecting many organs and systems of the body, particularly the
1021:
83:
2913:
1533:
at position 8993 (written as T8993G). The mutations that cause
1068:
is one of the two ATP synthase mitochondrial genes (red boxes).
522:
proton-transporting ATP synthase activity, rotational mechanism
563:
proton-transporting ATP synthase complex, coupling factor F(o)
2574:"Natural selection shaped regional mtDNA variation in humans"
1855:"Entrez Gene: MT-ATP6 mitochondrially encoded ATP synthase 6"
1245:
catalytic portion to rotate with the central rotary element.
1225:
complex depends upon the rotation of the central stalk and F
1979:"A PLANT BIOCHEMIST'S VIEW OF H+-ATPases AND ATP SYNTHASES"
1257:
in the mitochondria have been associated with a variety of
1124:
The MT-ATP6 protein weighs 24.8 kDa and is composed of 226
1370:
at positions 8610 and 8614 that result in a homopolymeric
1159:
fraction derives its name from the term "Fraction 1" and F
1265:
disorders, including mitochondrial complex V deficiency,
1594:. The T9185C mutation resulted in a mild and reversible
1064:
gene on the L strand of the human mitochondrial genome.
293:
1923:
Cardiac
Organellar Protein Atlas Knowledgebase (COPaKB)
2314:"20 binary interactions found for search term MT-ATP6"
2220:"Mitochondrial DNA-Associated Leigh Syndrome and NARP"
548:
mitochondrial proton-transporting ATP synthase complex
3727:
458:
589:
mitochondrial ATP synthesis coupled proton transport
3571:
3546:
3516:
3496:
3446:
3437:
3391:
3354:
3322:
3290:
3238:
3229:
3185:
3153:
3126:
3104:
3067:
3058:
3035:
3007:
2984:
2957:
2948:
2779:
2278:
Biochimica et
Biophysica Acta (BBA) - Bioenergetics
868:
849:
825:
806:
2226:. Seattle (WA): University of Washington, Seattle.
1715:
1713:
1711:
1694:
1692:
1690:
30:"ATP6" redirects here. For the nuclear genes, see
1381:. This condition is characterized by thickening (
240:
162:
1674:have published a paper detailing the successful
1253:Mutations to MT-ATP6 and other genes affecting
1213:). It forms a transmembrane 4-α-bundle.
1199:homologue of this subunit was modeled based on
1720:GRCm38: Ensembl release 89: ENSMUSG00000064357
1578:at position 9191 converted a highly conserved
2925:
1117:gene ends in the +1 reading frame with a TAG
8:
1608:neuropathy, ataxia, and retinitis pigmentosa
1699:GRCh38: Ensembl release 89: ENSG00000198899
1505:. Roughly half of affected patients die of
1008:complex of the large, transmembrane F-type
3718:United States National Library of Medicine
3443:
3413:Mitochondrial permeability transition pore
3395:
3235:
3064:
2954:
2932:
2918:
2910:
1338:. They tend to develop elevated levels of
639:
484:
281:
203:
123:
2902:at the U.S. National Library of Medicine
2861:
2728:
2693:
2650:
2607:
2597:
2554:
2408:
2363:
2289:
2114:
1953:
1894:
1654:MT-ATP6 has been shown to have 20 binary
512:proton transmembrane transporter activity
3716:This article incorporates text from the
3408:Mitochondrial membrane transport protein
2051:
2049:
2047:
1849:
1847:
1537:impair the function or stability of the
950:
568:proton-transporting ATP synthase complex
3734:
2809:International Journal of Legal Medicine
1919:"ATP synthase subunit A, mitochondrial"
1686:
1155:of the enzyme has a long history. The F
3167:Cholesterol side-chain cleavage enzyme
599:ATP synthesis coupled proton transport
70:, ATPase6, MTATP synthase Fo subunit 6
40:
2318:IntAct Molecular Interaction Database
1828:
1826:
1824:
1822:
1820:
1642:), and an unusually small head size (
245:
229:
224:
167:
149:
144:
7:
2625:Ingman M, Gyllensten U (July 2003).
2095:European Journal of Medical Genetics
2057:"Mitochondrial complex V deficiency"
1633:Familial bilateral striatal necrosis
3081:Coenzyme Q – cytochrome c reductase
2543:The Journal of Biological Chemistry
2218:Thorburn DR, Rahman S (1993–2015).
2141:International Journal of Cardiology
1983:The Journal of Experimental Biology
1942:The Journal of Biological Chemistry
1489:and include movement disorders and
1298:instead of two distinct syndromes.
1267:Leber's hereditary optic neuropathy
1128:. The protein is a subunit of the F
3267:Oxoglutarate dehydrogenase complex
3202:Glycerol-3-phosphate dehydrogenase
2674:American Journal of Human Genetics
1302:Mitochondrial complex V deficiency
865:
846:
822:
803:
779:
760:
734:
715:
689:
670:
507:transmembrane transporter activity
463:
381:
319:
298:
25:
3212:Carnitine palmitoyltransferase II
1314:that can cause a wide variety of
1088:in length. An unusual feature of
969:(in blue) or in the +1 frame for
3737:
3336:Carbamoyl phosphate synthetase I
2976:Long-chain-fatty-acid—CoA ligase
2971:Carnitine palmitoyltransferase I
2863:10.1111/j.1471-4159.2004.02505.x
2410:10.1203/00006450-199212000-00022
2073:
216:
136:
3197:Glutamate aspartate transporter
1936:Kagawa Y, Racker E (May 1966).
1368:single-nucleotide polymorphisms
1004:. This subunit belongs to the F
3314:Pyruvate dehydrogenase complex
3272:Succinyl coenzyme A synthetase
1358:) and damage to other organs.
538:integral component of membrane
447:More reference expression data
347:right hemisphere of cerebellum
1:
2761:10.1016/S0014-4827(03)00261-1
1955:10.1016/S0021-9258(18)96640-8
1887:10.1161/CIRCRESAHA.113.301151
371:muscle layer of sigmoid colon
3118:Dihydroorotate dehydrogenase
2291:10.1016/j.bbabio.2007.05.005
2153:10.1016/j.ijcard.2016.01.026
2018:Journal of Molecular Biology
1977:Mccarty RE (November 1992).
1656:protein-protein interactions
543:mitochondrial inner membrane
3172:Steroid 11-beta-hydroxylase
2177:Journal of Medical Genetics
1379:hypertrophic cardiomyopathy
1171:unit of ATP synthase. The F
3781:
3346:N-Acetylglutamate synthase
3341:Ornithine transcarbamylase
3145:Glycerol phosphate shuttle
3011:monoamine neurotransmitter
2791:10.1016/j.bbrc.2003.12.013
2749:Experimental Cell Research
2107:10.1016/j.ejmg.2017.04.006
1590:, leading to a Leigh-type
1195:(or A6L). 3D structure of
1109:gene. With respect to the
355:mucosa of transverse colon
29:
3760:Human mitochondrial genes
3700:
3398:
3374:
3071:oxidative phosphorylation
2850:Journal of Neurochemistry
2821:10.1007/s00414-004-0427-6
2440:10.1016/j.tig.2006.04.001
2030:10.1016/j.jmb.2005.06.012
1755:"Mouse PubMed Reference:"
1737:"Human PubMed Reference:"
1547:oxidative phosphorylation
1545:production and impairing
1401:as well as a change from
1255:oxidative phosphorylation
1014:oxidative phosphorylation
938:
933:
929:
922:
906:
887:
872:
853:
842:
829:
810:
799:
786:
782:
767:
763:
754:
741:
737:
722:
718:
709:
696:
692:
677:
673:
664:
649:
642:
638:
622:
487:
483:
471:
466:
457:
444:
393:
384:
343:Descending thoracic aorta
331:
322:
292:
284:
280:
263:
250:
236:
231:Mitochondrial DNA (mouse)
215:
206:
202:
185:
172:
158:
152:Mitochondrial DNA (human)
135:
126:
122:
77:
74:
64:
57:
52:
48:
43:
3262:Isocitrate dehydrogenase
3140:Malate-aspartate shuttle
2904:Medical Subject Headings
2717:Human Molecular Genetics
1672:SENS Research Foundation
1312:electron transport chain
1148:portion of the complex.
1113:reading frame (+3), the
1018:electron transport chain
609:ATP biosynthetic process
3309:Glutamate dehydrogenase
3096:Succinate dehydrogenase
2599:10.1073/pnas.0136972100
2189:10.1136/jmg.2008.063149
2061:Genetics Home Reference
1838:Genetics Home Reference
1586:at position 222 of the
1287:mitochondrial disorders
1285:. The severity of some
3765:Transmembrane proteins
3705:mitochondrial diseases
3304:Aspartate transaminase
2961:fatty acid degradation
2900:MT-ATP6+protein,+human
2556:10.1074/jbc.M202605200
2344:Nucleic Acids Research
1136:ATPase, also known as
1069:
974:
405:superior frontal gyrus
3418:Mitochondrial carrier
3294:anaplerotic reactions
3130:mitochondrial shuttle
3108:pyrimidine metabolism
2251:10.1055/s-2005-872845
1995:10.1242/jeb.172.1.431
1513:by the age of three.
1491:peripheral neuropathy
1249:Clinical significance
1059:
1030:adenosine diphosphate
954:
900:Chr M: 0.01 – 0.01 Mb
893:Chr M: 0.01 – 0.01 Mb
584:response to hyperoxia
401:primary visual cortex
3425:Translocator protein
3282:Malate dehydrogenase
3177:Aldosterone synthase
1875:Circulation Research
1676:allotopic expression
1541:complex, inhibiting
1330:), extreme fatigue (
1103:with the end of the
3037:Intermembrane space
2590:2003PNAS..100..171M
2469:2000Natur.408..708I
1787:1981Natur.290..457A
1435:delayed development
1336:developmental delay
1201:electron microscopy
429:ganglionic eminence
3720:, which is in the
3392:Other/to be sorted
3357:alcohol metabolism
3217:Uncoupling protein
3091:NADH dehydrogenase
2730:10.1093/hmg/ddg238
2428:Trends in Genetics
2397:Pediatric Research
2356:10.1093/nar/gkw756
1415:palpebral fissures
1409:at position 55 of
1316:signs and symptoms
1070:
990:mitochondrial gene
975:
744:ENSMUSG00000064357
577:Biological process
531:Cellular component
495:Molecular function
3712:
3711:
3696:
3695:
3439:Mitochondrial DNA
3433:
3432:
3387:
3386:
3242:citric acid cycle
3225:
3224:
3031:
3030:
3023:Monoamine oxidase
2643:10.1101/gr.686603
2350:(19): 9342–9357.
1989:(Pt 1): 431–441.
1576:missense mutation
1503:cerebellar ataxia
1389:that can lead to
1283:mitochondrial DNA
1259:neurodegenerative
1203:data (chain M of
1082:mitochondrial DNA
1080:gene, located in
949:
948:
945:
944:
918:
917:
883:
882:
862:
861:
838:
837:
819:
818:
795:
794:
776:
775:
750:
749:
731:
730:
705:
704:
686:
685:
634:
633:
614:cristae formation
479:
478:
475:
474:
453:
452:
440:
439:
409:cerebellar cortex
378:
377:
335:left uterine tube
276:
275:
198:
197:
16:(Redirected from
3772:
3742:
3741:
3733:
3576:
3551:
3521:
3501:
3451:
3444:
3396:
3359:
3329:
3297:
3252:Citrate synthase
3245:
3236:
3190:
3160:
3133:
3111:
3074:
3065:
3045:Adenylate kinase
3016:
2992:
2964:
2955:
2934:
2927:
2920:
2911:
2883:
2865:
2840:
2802:
2772:
2742:
2732:
2707:
2697:
2664:
2654:
2621:
2611:
2601:
2568:
2558:
2549:(39): 36534–43.
2533:
2496:
2477:10.1038/35047064
2463:(6813): 708–13.
2451:
2422:
2412:
2378:
2377:
2367:
2335:
2329:
2328:
2326:
2325:
2310:
2304:
2303:
2293:
2269:
2263:
2262:
2234:
2228:
2227:
2215:
2209:
2208:
2171:
2165:
2164:
2135:
2129:
2128:
2118:
2089:
2083:
2077:
2076:
2072:
2070:
2068:
2053:
2042:
2041:
2013:
2007:
2006:
1974:
1968:
1967:
1957:
1933:
1927:
1926:
1915:
1909:
1908:
1898:
1865:
1859:
1858:
1851:
1842:
1841:
1830:
1815:
1814:
1795:10.1038/290457a0
1781:(5806): 457–65.
1769:
1763:
1762:
1751:
1745:
1744:
1733:
1727:
1717:
1706:
1696:
1212:
1060:Location of the
1002:subunit/chain A)
931:
930:
902:
895:
878:
866:
857:
847:
843:RefSeq (protein)
833:
823:
814:
804:
780:
761:
735:
716:
690:
671:
640:
485:
464:
449:
425:ventricular zone
389:
387:Top expressed in
382:
327:
325:Top expressed in
320:
299:
282:
272:
259:
248:
232:
220:
204:
194:
181:
170:
154:
140:
124:
118:
116:ATP6 - orthologs
69:
62:
41:
21:
3780:
3779:
3775:
3774:
3773:
3771:
3770:
3769:
3750:
3749:
3748:
3736:
3728:
3713:
3708:
3692:
3572:
3567:
3547:
3542:
3517:
3512:
3497:
3492:
3447:
3429:
3383:
3370:
3355:
3350:
3323:
3318:
3291:
3286:
3239:
3221:
3186:
3181:
3157:steroidogenesis
3154:
3149:
3127:
3122:
3105:
3100:
3068:
3054:
3050:Creatine kinase
3027:
3013:
3008:
3003:
2985:
2980:
2958:
2944:
2938:
2891:
2886:
2843:
2805:
2775:
2745:
2710:
2667:
2631:Genome Research
2624:
2571:
2536:
2502:Nature Genetics
2499:
2454:
2425:
2390:
2386:
2384:Further reading
2381:
2337:
2336:
2332:
2323:
2321:
2312:
2311:
2307:
2271:
2270:
2266:
2239:Neuropediatrics
2236:
2235:
2231:
2217:
2216:
2212:
2173:
2172:
2168:
2137:
2136:
2132:
2091:
2090:
2086:
2074:
2066:
2064:
2055:
2054:
2045:
2015:
2014:
2010:
1976:
1975:
1971:
1935:
1934:
1930:
1917:
1916:
1912:
1867:
1866:
1862:
1853:
1852:
1845:
1832:
1831:
1818:
1771:
1770:
1766:
1753:
1752:
1748:
1735:
1734:
1730:
1718:
1709:
1697:
1688:
1684:
1668:
1652:
1635:
1604:
1519:genetic testing
1511:cardiac failure
1487:viral infection
1427:
1344:lactic acidosis
1304:
1251:
1244:
1240:
1236:
1232:
1228:
1224:
1219:
1204:
1174:
1170:
1162:
1158:
1147:
1135:
1131:
1054:
1007:
997:
940:View/Edit Mouse
935:View/Edit Human
898:
891:
888:Location (UCSC)
874:
855:
831:
812:
725:ENSG00000198899
618:
572:
526:
517:protein binding
502:ATPase activity
445:
436:
431:
427:
423:
421:proximal tubule
419:
415:
413:muscle of thigh
411:
407:
403:
399:
385:
374:
369:
365:
361:
357:
353:
349:
345:
341:
337:
323:
267:
254:
246:
230:
207:Gene location (
189:
176:
168:
150:
127:Gene location (
78:
65:
58:
39:
28:
23:
22:
15:
12:
11:
5:
3778:
3776:
3768:
3767:
3762:
3752:
3751:
3747:
3746:
3710:
3709:
3701:
3698:
3697:
3694:
3693:
3691:
3690:
3685:
3680:
3675:
3670:
3665:
3660:
3655:
3650:
3645:
3640:
3635:
3630:
3625:
3620:
3615:
3610:
3605:
3600:
3595:
3590:
3585:
3579:
3577:
3569:
3568:
3566:
3565:
3560:
3554:
3552:
3544:
3543:
3541:
3540:
3535:
3530:
3524:
3522:
3514:
3513:
3511:
3510:
3504:
3502:
3494:
3493:
3491:
3490:
3485:
3480:
3475:
3470:
3465:
3460:
3454:
3452:
3441:
3435:
3434:
3431:
3430:
3428:
3427:
3422:
3421:
3420:
3415:
3405:
3399:
3393:
3389:
3388:
3385:
3384:
3382:
3381:
3375:
3372:
3371:
3369:
3368:
3362:
3360:
3352:
3351:
3349:
3348:
3343:
3338:
3332:
3330:
3320:
3319:
3317:
3316:
3311:
3306:
3300:
3298:
3288:
3287:
3285:
3284:
3279:
3274:
3269:
3264:
3259:
3254:
3248:
3246:
3233:
3227:
3226:
3223:
3222:
3220:
3219:
3214:
3209:
3204:
3199:
3193:
3191:
3183:
3182:
3180:
3179:
3174:
3169:
3163:
3161:
3151:
3150:
3148:
3147:
3142:
3136:
3134:
3124:
3123:
3121:
3120:
3114:
3112:
3102:
3101:
3099:
3098:
3093:
3088:
3083:
3077:
3075:
3062:
3060:Inner membrane
3056:
3055:
3053:
3052:
3047:
3041:
3039:
3033:
3032:
3029:
3028:
3026:
3025:
3019:
3017:
3005:
3004:
3002:
3001:
2995:
2993:
2982:
2981:
2979:
2978:
2973:
2967:
2965:
2952:
2950:Outer membrane
2946:
2945:
2939:
2937:
2936:
2929:
2922:
2914:
2908:
2907:
2897:
2890:
2889:External links
2887:
2885:
2884:
2856:(2): 490–501.
2841:
2803:
2773:
2743:
2723:(18): 2341–8.
2708:
2686:10.1086/377718
2665:
2622:
2569:
2534:
2497:
2452:
2423:
2387:
2385:
2382:
2380:
2379:
2330:
2305:
2264:
2229:
2210:
2166:
2130:
2101:(6): 345–351.
2084:
2043:
2008:
1969:
1948:(10): 2461–6.
1928:
1910:
1881:(9): 1043–53.
1860:
1843:
1816:
1764:
1746:
1728:
1707:
1685:
1683:
1680:
1667:
1664:
1651:
1648:
1634:
1631:
1603:
1600:
1535:Leigh syndrome
1515:Leigh syndrome
1483:Leigh syndrome
1431:Leigh syndrome
1426:
1425:Leigh syndrome
1423:
1387:cardiac muscle
1356:encephalopathy
1352:hyperammonemia
1350:in the blood (
1342:in the blood (
1320:nervous system
1303:
1300:
1291:Leigh syndrome
1275:Leigh syndrome
1263:cardiovascular
1250:
1247:
1242:
1238:
1234:
1230:
1226:
1222:
1218:
1215:
1172:
1168:
1160:
1156:
1145:
1133:
1129:
1053:
1050:
1046:Leigh syndrome
1005:
995:
994:ATP synthase F
947:
946:
943:
942:
937:
927:
926:
920:
919:
916:
915:
913:
911:
904:
903:
896:
889:
885:
884:
881:
880:
870:
869:
863:
860:
859:
851:
850:
844:
840:
839:
836:
835:
827:
826:
820:
817:
816:
808:
807:
801:
797:
796:
793:
792:
784:
783:
777:
774:
773:
765:
764:
758:
752:
751:
748:
747:
739:
738:
732:
729:
728:
720:
719:
713:
707:
706:
703:
702:
694:
693:
687:
684:
683:
675:
674:
668:
662:
661:
656:
651:
647:
646:
636:
635:
632:
631:
620:
619:
617:
616:
611:
606:
601:
596:
591:
586:
580:
578:
574:
573:
571:
570:
565:
560:
555:
550:
545:
540:
534:
532:
528:
527:
525:
524:
519:
514:
509:
504:
498:
496:
492:
491:
481:
480:
477:
476:
473:
472:
469:
468:
461:
455:
454:
451:
450:
442:
441:
438:
437:
435:
434:
430:
426:
422:
418:
414:
410:
406:
402:
398:
394:
391:
390:
379:
376:
375:
373:
372:
368:
364:
360:
356:
352:
351:body of uterus
348:
344:
340:
339:gastric mucosa
336:
332:
329:
328:
316:
315:
307:
296:
290:
289:
286:RNA expression
278:
277:
274:
273:
265:
261:
260:
252:
249:
244:
238:
237:
234:
233:
228:
222:
221:
213:
212:
200:
199:
196:
195:
187:
183:
182:
174:
171:
166:
160:
159:
156:
155:
148:
142:
141:
133:
132:
120:
119:
76:
72:
71:
63:
55:
54:
50:
49:
46:
45:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3777:
3766:
3763:
3761:
3758:
3757:
3755:
3745:
3740:
3735:
3731:
3726:
3725:
3723:
3722:public domain
3719:
3707:
3706:
3699:
3689:
3686:
3684:
3681:
3679:
3676:
3674:
3671:
3669:
3666:
3664:
3661:
3659:
3656:
3654:
3651:
3649:
3646:
3644:
3641:
3639:
3636:
3634:
3631:
3629:
3626:
3624:
3621:
3619:
3616:
3614:
3611:
3609:
3606:
3604:
3601:
3599:
3596:
3594:
3591:
3589:
3586:
3584:
3581:
3580:
3578:
3575:
3570:
3564:
3561:
3559:
3556:
3555:
3553:
3550:
3545:
3539:
3536:
3534:
3531:
3529:
3526:
3525:
3523:
3520:
3515:
3509:
3506:
3505:
3503:
3500:
3495:
3489:
3486:
3484:
3481:
3479:
3476:
3474:
3471:
3469:
3466:
3464:
3461:
3459:
3456:
3455:
3453:
3450:
3445:
3442:
3440:
3436:
3426:
3423:
3419:
3416:
3414:
3411:
3410:
3409:
3406:
3404:
3401:
3400:
3397:
3394:
3390:
3380:
3377:
3376:
3373:
3367:
3364:
3363:
3361:
3358:
3353:
3347:
3344:
3342:
3339:
3337:
3334:
3333:
3331:
3328:
3327:
3321:
3315:
3312:
3310:
3307:
3305:
3302:
3301:
3299:
3296:
3295:
3289:
3283:
3280:
3278:
3275:
3273:
3270:
3268:
3265:
3263:
3260:
3258:
3255:
3253:
3250:
3249:
3247:
3244:
3243:
3237:
3234:
3232:
3228:
3218:
3215:
3213:
3210:
3208:
3205:
3203:
3200:
3198:
3195:
3194:
3192:
3189:
3184:
3178:
3175:
3173:
3170:
3168:
3165:
3164:
3162:
3159:
3158:
3152:
3146:
3143:
3141:
3138:
3137:
3135:
3132:
3131:
3125:
3119:
3116:
3115:
3113:
3110:
3109:
3103:
3097:
3094:
3092:
3089:
3087:
3084:
3082:
3079:
3078:
3076:
3073:
3072:
3066:
3063:
3061:
3057:
3051:
3048:
3046:
3043:
3042:
3040:
3038:
3034:
3024:
3021:
3020:
3018:
3015:
3012:
3006:
3000:
2997:
2996:
2994:
2991:
2989:
2983:
2977:
2974:
2972:
2969:
2968:
2966:
2963:
2962:
2956:
2953:
2951:
2947:
2942:
2941:Mitochondrial
2935:
2930:
2928:
2923:
2921:
2916:
2915:
2912:
2905:
2901:
2898:
2896:
2893:
2892:
2888:
2881:
2877:
2873:
2869:
2864:
2859:
2855:
2851:
2847:
2842:
2838:
2834:
2830:
2826:
2822:
2818:
2815:(3): 137–46.
2814:
2810:
2804:
2800:
2796:
2792:
2788:
2785:(3): 687–93.
2784:
2780:
2774:
2770:
2766:
2762:
2758:
2755:(2): 211–21.
2754:
2750:
2744:
2740:
2736:
2731:
2726:
2722:
2718:
2714:
2709:
2705:
2701:
2696:
2691:
2687:
2683:
2679:
2675:
2671:
2666:
2662:
2658:
2653:
2648:
2644:
2640:
2637:(7): 1600–6.
2636:
2632:
2628:
2623:
2619:
2615:
2610:
2605:
2600:
2595:
2591:
2587:
2583:
2579:
2575:
2570:
2566:
2562:
2557:
2552:
2548:
2544:
2540:
2535:
2531:
2527:
2523:
2519:
2515:
2514:10.1038/ng851
2511:
2507:
2503:
2498:
2494:
2490:
2486:
2482:
2478:
2474:
2470:
2466:
2462:
2458:
2453:
2449:
2445:
2441:
2437:
2434:(6): 339–45.
2433:
2429:
2424:
2420:
2416:
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2406:
2402:
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2252:
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2244:
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2230:
2225:
2221:
2214:
2211:
2206:
2202:
2198:
2194:
2190:
2186:
2183:(5): 308–14.
2182:
2178:
2170:
2167:
2162:
2158:
2154:
2150:
2146:
2142:
2134:
2131:
2126:
2122:
2117:
2112:
2108:
2104:
2100:
2096:
2088:
2085:
2081:
2080:public domain
2062:
2058:
2052:
2050:
2048:
2044:
2039:
2035:
2031:
2027:
2024:(4): 824–38.
2023:
2019:
2012:
2009:
2004:
2000:
1996:
1992:
1988:
1984:
1980:
1973:
1970:
1965:
1961:
1956:
1951:
1947:
1943:
1939:
1932:
1929:
1924:
1920:
1914:
1911:
1906:
1902:
1897:
1892:
1888:
1884:
1880:
1876:
1872:
1864:
1861:
1856:
1850:
1848:
1844:
1839:
1835:
1829:
1827:
1825:
1823:
1821:
1817:
1812:
1808:
1804:
1800:
1796:
1792:
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1784:
1780:
1776:
1768:
1765:
1760:
1756:
1750:
1747:
1742:
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1732:
1729:
1725:
1721:
1716:
1714:
1712:
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1695:
1693:
1691:
1687:
1681:
1679:
1677:
1673:
1665:
1663:
1661:
1657:
1649:
1647:
1645:
1641:
1632:
1630:
1628:
1624:
1620:
1617:
1613:
1609:
1602:NARP syndrome
1601:
1599:
1597:
1593:
1589:
1585:
1581:
1577:
1573:
1572:heteroplasmic
1569:
1565:
1561:
1557:
1556:heteroplasmic
1552:
1548:
1544:
1540:
1536:
1532:
1528:
1524:
1520:
1516:
1512:
1508:
1504:
1500:
1496:
1493:, as well as
1492:
1488:
1484:
1480:
1476:
1472:
1468:
1464:
1460:
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1452:
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1440:
1436:
1432:
1424:
1422:
1420:
1416:
1412:
1408:
1404:
1400:
1396:
1392:
1391:heart failure
1388:
1384:
1380:
1375:
1373:
1369:
1365:
1361:
1357:
1353:
1349:
1345:
1341:
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1333:
1329:
1325:
1321:
1317:
1313:
1309:
1301:
1299:
1296:
1292:
1288:
1284:
1280:
1279:NARP syndrome
1276:
1272:
1268:
1264:
1260:
1256:
1248:
1246:
1216:
1214:
1211:
1207:
1202:
1198:
1194:
1190:
1186:
1182:
1178:
1166:
1154:
1149:
1143:
1142:transmembrane
1139:
1127:
1122:
1120:
1116:
1112:
1108:
1107:
1102:
1099:of its first
1098:
1095:
1091:
1087:
1083:
1079:
1075:
1067:
1063:
1058:
1051:
1049:
1047:
1043:
1039:
1035:
1031:
1027:
1023:
1019:
1015:
1011:
1003:
999:
991:
987:
986:
981:
980:
972:
968:
964:
963:
958:
953:
941:
936:
932:
928:
925:
921:
914:
912:
909:
905:
901:
897:
894:
890:
886:
879:
877:
871:
867:
864:
858:
852:
848:
845:
841:
834:
828:
824:
821:
815:
809:
805:
802:
800:RefSeq (mRNA)
798:
791:
790:
785:
781:
778:
772:
771:
766:
762:
759:
757:
753:
746:
745:
740:
736:
733:
727:
726:
721:
717:
714:
712:
708:
701:
700:
695:
691:
688:
682:
681:
676:
672:
669:
667:
663:
660:
657:
655:
652:
648:
645:
641:
637:
630:
626:
621:
615:
612:
610:
607:
605:
604:ion transport
602:
600:
597:
595:
592:
590:
587:
585:
582:
581:
579:
576:
575:
569:
566:
564:
561:
559:
556:
554:
553:mitochondrion
551:
549:
546:
544:
541:
539:
536:
535:
533:
530:
529:
523:
520:
518:
515:
513:
510:
508:
505:
503:
500:
499:
497:
494:
493:
490:
489:Gene ontology
486:
482:
470:
465:
462:
460:
456:
448:
443:
432:
428:
424:
420:
416:
412:
408:
404:
400:
396:
395:
392:
388:
383:
380:
370:
366:
362:
358:
354:
350:
346:
342:
338:
334:
333:
330:
326:
321:
318:
317:
314:
312:
308:
306:
305:
301:
300:
297:
295:
291:
287:
283:
279:
271:
266:
262:
258:
253:
243:
239:
235:
227:
223:
219:
214:
210:
205:
201:
193:
188:
184:
180:
175:
165:
161:
157:
153:
147:
143:
139:
134:
130:
125:
121:
117:
113:
109:
105:
101:
97:
93:
89:
85:
81:
73:
68:
61:
56:
51:
47:
42:
37:
33:
19:
3715:
3714:
3702:
3557:
3549:ATP synthase
3356:
3324:
3292:
3240:
3207:ATP synthase
3187:
3155:
3128:
3106:
3086:Cytochrome c
3069:
3009:
2999:Kynureninase
2986:
2959:
2853:
2849:
2812:
2808:
2782:
2778:
2752:
2748:
2720:
2716:
2680:(3): 671–6.
2677:
2673:
2634:
2630:
2584:(1): 171–6.
2581:
2577:
2546:
2542:
2508:(4): 394–9.
2505:
2501:
2460:
2456:
2431:
2427:
2403:(6): 731–5.
2400:
2396:
2347:
2343:
2333:
2322:. Retrieved
2317:
2308:
2284:(7): 913–9.
2281:
2277:
2267:
2245:(5): 314–8.
2242:
2238:
2232:
2224:GeneReviews
2223:
2213:
2180:
2176:
2169:
2144:
2140:
2133:
2116:10138/237062
2098:
2094:
2087:
2065:. Retrieved
2060:
2021:
2017:
2011:
1986:
1982:
1972:
1945:
1941:
1931:
1922:
1913:
1878:
1874:
1863:
1837:
1778:
1774:
1767:
1758:
1749:
1740:
1731:
1669:
1653:
1650:Interactions
1644:microcephaly
1636:
1627:ATP synthase
1605:
1539:ATP synthase
1428:
1419:micrognathia
1376:
1364:microcephaly
1305:
1252:
1220:
1153:nomenclature
1150:
1123:
1114:
1110:
1104:
1097:gene overlap
1089:
1077:
1073:
1071:
1065:
1061:
1041:
1010:ATP synthase
1001:
993:
984:
983:
978:
977:
976:
970:
966:
960:
956:
873:
854:
830:
811:
787:
768:
742:
723:
697:
678:
658:
653:
594:human ageing
433:right kidney
417:renal cortex
309:
302:
75:External IDs
3499:Complex III
1588:polypeptide
1507:respiratory
1383:hypertrophy
1340:lactic acid
1126:amino acids
363:right ovary
53:Identifiers
3754:Categories
3519:Complex IV
3326:urea cycle
3014:metabolism
2990:metabolism
2988:tryptophan
2324:2018-08-24
2320:. EMBL-EBI
2139:protein".
1726:, May 2017
1705:, May 2017
1682:References
1616:nucleotide
1612:nucleotide
1570:220 and a
1551:cell death
1523:nucleotide
1499:spasticity
1403:tryptophan
1191:, F6, and
1165:oligomycin
1119:stop codon
1094:nucleotide
1092:is the 46-
1086:base pairs
367:right lung
313:(ortholog)
96:HomoloGene
3703:see also
3449:Complex I
3257:Aconitase
2147:: 203–5.
1834:"MT-ATP6"
1640:hypotonia
1596:phenotype
1592:phenotype
1495:hypotonia
1399:threonine
1385:) of the
1374:stretch.
1328:hypotonia
1308:complex V
1138:Complex V
1084:, is 681
1052:Structure
1038:Mutations
1032:(ADP) to
1024:, called
998:subunit 6
973:(in red).
876:NP_904333
644:Orthologs
104:GeneCards
3403:Frataxin
3277:Fumarase
2943:proteins
2880:33013529
2872:15228605
2829:14760490
2799:14697245
2769:14499622
2739:12915481
2704:12870132
2661:12840039
2618:12509511
2565:12133827
2530:30012532
2522:11925565
2493:52850476
2485:11130070
2448:16678300
2374:27596602
2300:17568559
2259:16217706
2205:25354118
2197:19188198
2161:26803244
2125:28412374
2067:3 August
2038:16045926
1905:23965338
1722:–
1701:–
1666:Research
1407:arginine
1372:cytosine
1332:lethargy
1322:and the
1217:Function
924:Wikidata
623:Sources:
558:membrane
397:epiblast
359:prostate
32:V-ATPase
3744:Biology
3563:MT-ATP8
3558:MT-ATP6
3478:MT-ND4L
2837:8413730
2695:1180693
2586:Bibcode
2465:Bibcode
2419:1287564
2365:5100594
2003:9874753
1964:4223640
1896:4076475
1840:. NCBI.
1811:4355527
1803:7219534
1783:Bibcode
1724:Ensembl
1703:Ensembl
1623:guanine
1619:thymine
1584:proline
1580:leucine
1564:proline
1560:leucine
1531:guanine
1527:thymine
1411:MT-ATP8
1395:MT-ATP8
1348:ammonia
1334:), and
1310:of the
1197:E. coli
1115:MT-ATP8
1111:MT-ATP6
1106:MT-ATP8
1090:MT-ATP6
1078:MT-ATP6
1074:MT-ATP6
1066:MT-ATP6
1062:MT-ATP6
1042:MT-ATP6
1040:in the
1026:protons
1016:in the
988:) is a
979:MT-ATP6
971:MT-ATP8
967:MT-ATP6
962:MT-ATP8
957:MT-ATP6
756:UniProt
711:Ensembl
650:Species
629:QuickGO
288:pattern
60:Aliases
3730:Portal
3668:MT-TS2
3663:MT-TS1
3633:MT-TL2
3628:MT-TL1
3538:MT-CO3
3533:MT-CO2
3528:MT-CO1
3508:MT-CYB
3488:MT-ND6
3483:MT-ND5
3473:MT-ND4
3468:MT-ND3
3463:MT-ND2
3458:MT-ND1
3231:Matrix
2906:(MeSH)
2878:
2870:
2835:
2827:
2797:
2767:
2737:
2702:
2692:
2659:
2652:403733
2649:
2616:
2609:140917
2606:
2563:
2528:
2520:
2491:
2483:
2457:Nature
2446:
2417:
2372:
2362:
2298:
2257:
2203:
2195:
2159:
2123:
2063:. NCBI
2036:
2001:
1962:
1903:
1893:
1809:
1801:
1775:Nature
1479:MT-CO3
1475:MT-ND6
1471:MT-ND5
1467:MT-ND4
1463:MT-ND3
1459:MT-ND2
1455:MT-ND1
1439:MT-TL1
1360:Ataxia
1277:, and
1101:codons
910:search
908:PubMed
789:P00848
770:P00846
666:Entrez
459:BioGPS
268:8,607
255:7,927
190:9,207
177:8,527
84:516060
36:ATPase
3688:MT-TY
3683:MT-TW
3678:MT-TV
3673:MT-TT
3658:MT-TR
3653:MT-TQ
3648:MT-TP
3643:MT-TN
3638:MT-TM
3623:MT-TK
3618:MT-TI
3613:MT-TH
3608:MT-TG
3603:MT-TF
3598:MT-TE
3593:MT-TD
3588:MT-TC
3583:MT-TA
3379:PMPCB
3366:ALDH2
3188:other
2876:S2CID
2833:S2CID
2526:S2CID
2489:S2CID
2201:S2CID
1807:S2CID
1621:with
1582:to a
1568:codon
1529:with
1451:MT-TV
1447:MT-TW
1443:MT-TK
1324:heart
1271:MELAS
1237:alpha
699:17705
659:Mouse
654:Human
625:Amigo
311:Mouse
304:Human
251:Start
209:Mouse
173:Start
129:Human
92:99927
3574:tRNA
2868:PMID
2825:PMID
2795:PMID
2765:PMID
2735:PMID
2700:PMID
2657:PMID
2614:PMID
2561:PMID
2518:PMID
2481:PMID
2444:PMID
2415:PMID
2370:PMID
2296:PMID
2282:1767
2255:PMID
2193:PMID
2157:PMID
2121:PMID
2069:2018
2034:PMID
1999:PMID
1960:PMID
1901:PMID
1799:PMID
1670:The
1574:T→C
1501:and
1477:and
1295:NARP
1261:and
1241:beta
1210:1c17
1151:The
1072:The
1022:ions
1000:(or
985:ATP6
982:(or
959:and
680:4508
294:Bgee
242:Band
226:Chr.
164:Band
146:Chr.
108:ATP6
100:5012
80:OMIM
67:ATP6
44:ATP6
34:and
18:ATP6
2858:doi
2817:doi
2813:118
2787:doi
2783:313
2757:doi
2753:289
2725:doi
2690:PMC
2682:doi
2647:PMC
2639:doi
2604:PMC
2594:doi
2582:100
2551:doi
2547:277
2510:doi
2473:doi
2461:408
2436:doi
2405:doi
2360:PMC
2352:doi
2286:doi
2247:doi
2185:doi
2149:doi
2145:207
2111:hdl
2103:doi
2026:doi
2022:351
1991:doi
1987:172
1950:doi
1946:241
1891:PMC
1883:doi
1879:113
1791:doi
1779:290
1660:SP1
1566:at
1562:to
1543:ATP
1509:or
1421:).
1405:to
1273:),
1206:PDB
1034:ATP
856:n/a
832:n/a
813:n/a
467:n/a
264:End
247:n/a
186:End
169:n/a
112:OMA
88:MGI
3756::
2874:.
2866:.
2854:90
2852:.
2848:.
2831:.
2823:.
2811:.
2793:.
2781:.
2763:.
2751:.
2733:.
2721:12
2719:.
2715:.
2698:.
2688:.
2678:73
2676:.
2672:.
2655:.
2645:.
2635:13
2633:.
2629:.
2612:.
2602:.
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2541:.
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2199:.
2191:.
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2155:.
2143:.
2119:.
2109:.
2099:60
2097:.
2059:.
2046:^
2032:.
2020:.
1997:.
1985:.
1981:.
1958:.
1944:.
1940:.
1921:.
1899:.
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1877:.
1873:.
1846:^
1836:.
1819:^
1805:.
1797:.
1789:.
1777:.
1757:.
1739:.
1710:^
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1662:.
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1473:,
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1362:,
1208::
1187:,
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1121:.
1048:.
1036:.
627:/
270:bp
257:bp
192:bp
179:bp
110:;
106::
102:;
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211:)
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114::
38:.
20:)
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