196:
900:
116:
1121:(ROS). It remains unclear, however, why the effects of these mutations are often limited to the nerve that relays visual information from the eye to the brain (the optic nerve). Additional genetic and environmental factors probably contribute to the vision loss and other medical problems associated with Leber hereditary optic neuropathy.
1100:
mutation is responsible for about 14 percent of all cases of LHON, and it is the most common cause of this disorder among people of French
Canadian descent. This mutation changes a single amino acid in the NADH dehydrogenase 6 protein at position 64, from methionine to valine. The T14484C mutation is
1688:
Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K (May 1991). "Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of
Parkinson's disease and mitochondrial encephalomyopathy".
1023:
domain for the peripheral arm that includes all the known redox centres and the NADH binding site. MT-ND6 and the rest of the mitochondrially encoded subunits are the most hydrophobic of the subunits of
Complex I and form the core of the transmembrane region.
2033:
Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B (July 1996). "Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene".
1156:
G14459A mutation replaces the amino acid alanine with the amino acid valine at protein position 72 in the NADH-ubiquinone oxidoreductase chain 6 protein. This genetic change also has been found in people with LHON and a movement disorder called
1801:
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".
1363:
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".
1755:
Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G (1985). "Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase".
1415:
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 (October 2013).
1607:
Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E (December 1991). "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base".
1101:
associated with a good long-term prognosis; affected people with this genetic change have a 37 percent to 65 percent chance of some visual recovery. Researchers are investigating how mutations in the
1169:
gene alteration is related to the specific features of Leigh syndrome, LHON, or dystonia. It also remains unclear why a single mutation can cause such varied signs and symptoms in different people.
2088:
Besch D, Leo-Kottler B, Zrenner E, Wissinger B (September 1999). "Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene".
2055:
Sudoyo H, Sitepu M, Malik S, Poesponegoro HD, Marzuki S (1999). "Leber's hereditary optic neuropathy in
Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations".
1947:"A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia"
1718:
Chomyn A, Cleeter MW, Ragan CI, Riley M, Doolittle RF, Attardi G (October 1986). "URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit".
1506:
Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG (August 2013). "Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C".
2375:
1161:, which involves involuntary muscle contractions, tremors, and other uncontrolled movements. This mutation appears to disrupt the normal assembly or activity of
2000:"Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia"
3161:
2856:
646:
627:
77:
2851:
2942:
2524:
2610:
1106:
1093:
954:
1265:
2419:
1247:
2368:
2090:
Graefe's
Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie
1117:, which may affect the generation of ATP and may also increase the production within mitochondria of potentially harmful molecules called
980:
The encoded protein is 18 kDa and composed of 172 amino acids. MT-ND6 is one of seven mitochondrial genes encoding subunits of the enzyme
195:
3184:
2710:
2645:
2655:
2480:
1316:
1847:
Montoya J, Ojala D, Attardi G (April 1981). "Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs".
2981:
2779:
2414:
115:
2213:
Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N (January 2001).
2168:
Ingman M, Kaessmann H, Pääbo S, Gyllensten U (December 2000). "Mitochondrial genome variation and the origin of modern humans".
1132:, a progressive brain disorder that typically appears in infancy or early childhood. Affected children may experience vomiting,
3148:
2976:
2640:
2361:
1234:
1213:
981:
934:
840:
847:
2971:
2757:
2715:
1230:
2343:
1209:
2561:
2503:
2393:
938:
57:
2615:
1543:
Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ (June 2006). "Harvesting the fruit of the human mtDNA tree".
2789:
2784:
2588:
2454:
2514:
129:
2705:
2583:
942:
691:
65:
2752:
2539:
1118:
672:
1076:). The flow of electrons changes the redox state of the protein, resulting in a conformational change and p
899:
2747:
2404:
1141:
3121:
2861:
2737:
2573:
2551:
1057:
2215:"The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy"
1894:"Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs"
2962:
2868:
2725:
2674:
2620:
2177:
1958:
1905:
1856:
1811:
1765:
1727:
1373:
923:
44:
1149:
1129:
1080:
shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.
1065:
950:
1012:, this enzyme is the largest of the respiratory complexes. The structure is L-shaped with a long,
2892:
2660:
2534:
2201:
2156:
2113:
2076:
1880:
1835:
1789:
1633:
1531:
1397:
1053:
89:
823:
3189:
2882:
2685:
2466:
2324:
2279:
2236:
2193:
2148:
2105:
2068:
2043:
2021:
1998:
De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA (April 1996).
1986:
1933:
1872:
1827:
1781:
1743:
1706:
1676:
1625:
1595:
1560:
1523:
1447:
1389:
1312:
1182:
1133:
1041:
37:
2695:
2488:
2314:
2304:
2269:
2261:
2226:
2185:
2138:
2097:
2060:
2011:
1976:
1966:
1923:
1913:
1864:
1819:
1773:
1735:
1698:
1666:
1658:
1617:
1585:
1552:
1515:
1437:
1429:
1381:
288:
219:
186:
141:
2600:
2493:
2125:
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (October 1999).
1145:
1137:
263:
2127:"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA"
1036:
that is believed to belong to the minimal assembly of core proteins required to catalyze
85:
2181:
1962:
1909:
1860:
1815:
1769:
1731:
1647:"Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region"
1377:
2274:
2249:
2016:
1999:
1442:
1417:
1671:
1646:
1574:"An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy"
561:
556:
551:
546:
541:
525:
520:
515:
510:
505:
500:
484:
479:
3178:
3165:
2384:
2349:
GeneReviews/NCBI/NIH/UW entry on
Mitochondrial DNA-Associated Leigh Syndrome and NARP
2319:
2292:
1981:
1946:
1928:
1893:
1702:
1590:
1573:
1465:
1418:"Integration of cardiac proteome biology and medicine by a specialized knowledgebase"
1016:
466:
2205:
2160:
2117:
2080:
1793:
1637:
1535:
3017:
2992:
2650:
2529:
2442:
1884:
1839:
1401:
281:
106:
69:
1433:
977:
is the only protein-coding gene located on the L-strand of the human mitogenome.
93:
1645:
Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA (March 1991).
1270:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1252:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1020:
1013:
1951:
Proceedings of the
National Academy of Sciences of the United States of America
1898:
Proceedings of the
National Academy of Sciences of the United States of America
364:
2769:
2431:
2348:
2231:
2214:
1556:
1114:
1045:
203:
123:
73:
48:, MTMT-NADH dehydrogenase, subunit 6 (complex I), NADH dehydrogenase subunit 6
1068:
in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to
2700:
2064:
1971:
1739:
1162:
1110:
1069:
1033:
1009:
973:
gene is located in human mitochondrial DNA from base pair 14,149 to 14,673.
591:
424:
302:
247:
234:
169:
156:
81:
2328:
2309:
2283:
2240:
2197:
2152:
2109:
1564:
1527:
1451:
2101:
2072:
2047:
2025:
1990:
1937:
1918:
1876:
1831:
1785:
1747:
1710:
1680:
1662:
1629:
1599:
1393:
911:
is one of the seven NADH dehydrogenase mitochondrial genes (yellow boxes).
887:
882:
2846:
2720:
2353:
1519:
1483:
1288:
1158:
958:
871:
736:
717:
16:
Mitochondrial gene coding for a protein involved in the respiratory chain
1484:"MT-ND6 - NADH-ubiquinone oxidoreductase chain 6 - Homo sapiens (Human)"
3006:
3001:
2921:
2293:"Major genomic mitochondrial lineages delineate early human expansions"
1621:
1001:
930:
703:
658:
3111:
3106:
3076:
3071:
2951:
2926:
2916:
2911:
2906:
2901:
2189:
1868:
1823:
1777:
1385:
1337:
1185:
1178:
1177:
MT-ND6 interacts with the NADH dehydrogenase iron-sulfur protein 3 (
1005:
997:
993:
989:
985:
855:
613:
2291:
Maca-Meyer N, González AM, Larruga JM, Flores C, Cabrera VM (2003).
1892:
Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N (January 1995).
2265:
3131:
3126:
3116:
3101:
3096:
3091:
3086:
3081:
3066:
3061:
3056:
3051:
3046:
3041:
3036:
3031:
3026:
2822:
2809:
2143:
2126:
576:
572:
1049:
1037:
919:
61:
2357:
1309:
Fundamentals of biochemistry : life at the molecular level
1128:
gene also has been identified in a small number of people with
1307:
Donald Voet; Judith G. Voet; Charlotte W. Pratt (2013). "18".
1032:
The MT-ND6 product is a subunit of the respiratory chain
907:
gene on the L strand of the human mitochondrial genome.
271:
1470:
Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)
2344:
Mass spectrometry characterization of MT-ND6 at COPaKB
1311:(4th ed.). Hoboken, NJ: Wiley. pp. 581–620.
1052:
binds to Complex I and transfers two electrons to the
436:
1165:
in mitochondria. It is not known, however, how this
1064:. The electrons are transferred through a series of
562:
mitochondrial electron transport, NADH to ubiquinone
3015:
2990:
2960:
2940:
2890:
2881:
2835:
2798:
2766:
2734:
2682:
2673:
2629:
2597:
2570:
2548:
2511:
2502:
2479:
2451:
2428:
2401:
2392:
1691:
Biochemical and Biophysical Research Communications
1578:
Biochemical and Biophysical Research Communications
816:
797:
773:
754:
1289:"Entrez Gene: MT-ND6 NADH dehydrogenase subunit 6"
1226:
1224:
1222:
1205:
1203:
1201:
1152:can also occur in people with this disorder. This
557:mitochondrial respiratory chain complex I assembly
218:
140:
1572:Johns DR, Neufeld MJ, Park RD (September 1992).
941:and is the largest of the five complexes of the
2248:Finnilä S, Lehtonen MS, Majamaa K (June 2001).
1124:A G → A mutation at the 14459 base pair in the
1088:A T → C mutation at the 14484 base pair in the
1231:GRCm38: Ensembl release 89: ENSMUSG00000064368
2369:
1283:
1281:
1279:
8:
1508:American Journal of Medical Genetics. Part A
1332:
1330:
1328:
1210:GRCh38: Ensembl release 89: ENSG00000198695
3162:United States National Library of Medicine
2887:
2857:Mitochondrial permeability transition pore
2839:
2679:
2508:
2398:
2376:
2362:
2354:
1945:Jun AS, Brown MD, Wallace DC (June 1994).
1488:UniProt.org: a hub for protein information
1109:. These genetic changes appear to prevent
587:
462:
259:
181:
101:
2318:
2308:
2273:
2250:"Phylogenetic network for European mtDNA"
2230:
2142:
2015:
1980:
1970:
1927:
1917:
1670:
1589:
1441:
1302:
1300:
1298:
3160:This article incorporates text from the
2852:Mitochondrial membrane transport protein
1466:"NADH-ubiquinone oxidoreductase chain 6"
1092:gene has been identified in people with
898:
480:NADH dehydrogenase (ubiquinone) activity
1197:
933:(ND6). The ND6 protein is a subunit of
2611:Cholesterol side-chain cleavage enzyme
928:NADH-ubiquinone oxidoreductase chain 6
18:
223:
207:
202:
145:
127:
122:
7:
2525:Coenzyme Q – cytochrome c reductase
1344:. U.S. National Library of Medicine
1107:Leber's hereditary optic neuropathy
1094:Leber's hereditary optic neuropathy
955:Leber's hereditary optic neuropathy
2711:Oxoglutarate dehydrogenase complex
2646:Glycerol-3-phosphate dehydrogenase
2254:American Journal of Human Genetics
2004:American Journal of Human Genetics
813:
794:
770:
751:
727:
708:
682:
663:
637:
618:
441:
359:
297:
276:
14:
2656:Carnitine palmitoyltransferase II
1060:(FMN) prosthetic arm to form FMNH
2780:Carbamoyl phosphate synthetase I
2420:Long-chain-fatty-acid—CoA ligase
2415:Carnitine palmitoyltransferase I
194:
114:
2641:Glutamate aspartate transporter
2036:German Journal of Ophthalmology
1113:from interacting normally with
982:NADH dehydrogenase (ubiquinone)
935:NADH dehydrogenase (ubiquinone)
2758:Pyruvate dehydrogenase complex
2716:Succinyl coenzyme A synthetase
1651:Molecular and Cellular Biology
1140:, and problems with movement.
501:integral component of membrane
425:More reference expression data
1:
1434:10.1161/CIRCRESAHA.113.301151
552:response to hydrogen peroxide
2562:Dihydroorotate dehydrogenase
1703:10.1016/0006-291X(91)92014-B
1591:10.1016/0006-291X(92)90479-5
939:mitochondrial inner membrane
506:mitochondrial inner membrane
2616:Steroid 11-beta-hydroxylase
1066:iron-sulfur (Fe-S) clusters
1048:(coenzyme Q10). Initially,
3206:
2790:N-Acetylglutamate synthase
2785:Ornithine transcarbamylase
2589:Glycerol phosphate shuttle
2455:monoamine neurotransmitter
945:. Variations in the human
937:, which is located in the
3185:Human mitochondrial genes
3144:
2842:
2818:
2515:oxidative phosphorylation
1557:10.1016/j.tig.2006.04.001
1490:. The UniProt Consortium.
1266:"Mouse PubMed Reference:"
1248:"Human PubMed Reference:"
949:gene are associated with
886:
881:
877:
870:
854:
835:
820:
801:
790:
777:
758:
747:
734:
730:
715:
711:
702:
689:
685:
670:
666:
657:
644:
640:
625:
621:
612:
597:
590:
586:
570:
465:
461:
449:
444:
435:
422:
371:
362:
309:
300:
270:
262:
258:
241:
228:
214:
209:Mitochondrial DNA (mouse)
193:
184:
180:
163:
150:
136:
130:Mitochondrial DNA (human)
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
2706:Isocitrate dehydrogenase
2584:Malate-aspartate shuttle
1181:) and the ATP-dependent
943:electron transport chain
2753:Glutamate dehydrogenase
2540:Succinate dehydrogenase
2232:10.1093/brain/124.1.209
2065:10.1002/humu.1380110186
1972:10.1073/pnas.91.13.6206
1740:10.1126/science.3764430
1342:Genetics Home Reference
1136:, delayed development,
1119:reactive oxygen species
521:mitochondrial membranes
485:oxidoreductase activity
3149:mitochondrial diseases
2748:Aspartate transaminase
2405:fatty acid degradation
2310:10.1186/1471-2156-2-13
912:
399:superior frontal gyrus
375:neural layer of retina
2862:Mitochondrial carrier
2738:anaplerotic reactions
2574:mitochondrial shuttle
2552:pyrimidine metabolism
2102:10.1007/s004170050307
1919:10.1073/pnas.92.2.532
1663:10.1128/MCB.11.3.1631
1084:Clinical significance
1058:flavin mononucleotide
902:
848:Chr M: 0.01 – 0.01 Mb
841:Chr M: 0.01 – 0.01 Mb
411:primary visual cortex
2869:Translocator protein
2726:Malate dehydrogenase
2621:Aldosterone synthase
1520:10.1002/ajmg.a.36000
1422:Circulation Research
1150:difficulty breathing
1096:(LHON). This common
1040:dehydrogenation and
924:mitochondrial genome
547:response to nicotine
387:striatum of neuraxis
2481:Intermembrane space
2182:2000Natur.408..708I
2059:. Suppl 1: S271-4.
1963:1994PNAS...91.6206J
1910:1995PNAS...92..532H
1861:1981Natur.290..465M
1816:1981Natur.290..457A
1770:1985Natur.314..592C
1732:1986Sci...234..614C
1378:1981Natur.290..457A
542:response to cocaine
3164:, which is in the
2836:Other/to be sorted
2801:alcohol metabolism
2661:Uncoupling protein
2535:NADH dehydrogenase
1622:10.1007/bf00206061
1545:Trends in Genetics
1054:isoalloxazine ring
913:
692:ENSMUSG00000064368
535:Biological process
494:Cellular component
473:Molecular function
395:hippocampus proper
321:right uterine tube
3156:
3155:
3140:
3139:
2883:Mitochondrial DNA
2877:
2876:
2831:
2830:
2686:citric acid cycle
2669:
2668:
2475:
2474:
2467:Monoamine oxidase
1042:electron transfer
897:
896:
893:
892:
866:
865:
831:
830:
810:
809:
786:
785:
767:
766:
743:
742:
724:
723:
698:
697:
679:
678:
653:
652:
634:
633:
582:
581:
457:
456:
453:
452:
431:
430:
418:
417:
407:cerebellar cortex
356:
355:
333:nucleus accumbens
317:left uterine tube
254:
253:
176:
175:
3197:
3020:
2995:
2965:
2945:
2895:
2888:
2840:
2803:
2773:
2741:
2696:Citrate synthase
2689:
2680:
2634:
2604:
2577:
2555:
2518:
2509:
2489:Adenylate kinase
2460:
2436:
2408:
2399:
2378:
2371:
2364:
2355:
2332:
2322:
2312:
2287:
2277:
2244:
2234:
2225:(Pt 1): 209–18.
2209:
2190:10.1038/35047064
2176:(6813): 708–13.
2164:
2146:
2121:
2084:
2051:
2029:
2019:
1994:
1984:
1974:
1941:
1931:
1921:
1888:
1869:10.1038/290465a0
1855:(5806): 465–70.
1843:
1824:10.1038/290457a0
1810:(5806): 457–65.
1797:
1778:10.1038/314592a0
1751:
1714:
1684:
1674:
1641:
1603:
1593:
1568:
1539:
1492:
1491:
1480:
1474:
1473:
1462:
1456:
1455:
1445:
1412:
1406:
1405:
1386:10.1038/290457a0
1372:(5806): 457–65.
1360:
1354:
1353:
1351:
1349:
1334:
1323:
1322:
1304:
1293:
1292:
1285:
1274:
1273:
1262:
1256:
1255:
1244:
1238:
1228:
1217:
1207:
1130:Leigh's syndrome
1008:. Also known as
984:, together with
951:Leigh's syndrome
903:Location of the
879:
878:
850:
843:
826:
814:
805:
795:
791:RefSeq (protein)
781:
771:
762:
752:
728:
709:
683:
664:
638:
619:
588:
463:
442:
427:
367:
365:Top expressed in
360:
305:
303:Top expressed in
298:
277:
260:
250:
237:
226:
210:
198:
182:
172:
159:
148:
132:
118:
102:
96:
47:
40:
19:
3205:
3204:
3200:
3199:
3198:
3196:
3195:
3194:
3175:
3174:
3172:
3157:
3152:
3136:
3016:
3011:
2991:
2986:
2961:
2956:
2941:
2936:
2891:
2873:
2827:
2814:
2799:
2794:
2767:
2762:
2735:
2730:
2683:
2665:
2630:
2625:
2601:steroidogenesis
2598:
2593:
2571:
2566:
2549:
2544:
2512:
2498:
2494:Creatine kinase
2471:
2457:
2452:
2447:
2429:
2424:
2402:
2388:
2382:
2340:
2335:
2290:
2247:
2212:
2167:
2131:Nature Genetics
2124:
2087:
2054:
2032:
1997:
1957:(13): 6206–10.
1944:
1891:
1846:
1800:
1764:(6012): 592–7.
1754:
1726:(4776): 614–8.
1717:
1687:
1644:
1606:
1571:
1542:
1505:
1501:
1499:Further reading
1496:
1495:
1482:
1481:
1477:
1464:
1463:
1459:
1414:
1413:
1409:
1362:
1361:
1357:
1347:
1345:
1336:
1335:
1326:
1319:
1306:
1305:
1296:
1287:
1286:
1277:
1264:
1263:
1259:
1246:
1245:
1241:
1229:
1220:
1208:
1199:
1194:
1183:metalloprotease
1175:
1146:kidney problems
1138:muscle weakness
1086:
1075:
1063:
1030:
967:
926:coding for the
888:View/Edit Mouse
883:View/Edit Human
846:
839:
836:Location (UCSC)
822:
803:
779:
760:
673:ENSG00000198695
566:
530:
489:
423:
414:
409:
405:
401:
397:
393:
389:
385:
381:
377:
363:
352:
347:
343:
341:caudate nucleus
339:
335:
331:
327:
323:
319:
315:
301:
245:
232:
224:
208:
185:Gene location (
167:
154:
146:
128:
105:Gene location (
94:ND6 - orthologs
56:
43:
36:
17:
12:
11:
5:
3203:
3201:
3193:
3192:
3187:
3177:
3176:
3154:
3153:
3145:
3142:
3141:
3138:
3137:
3135:
3134:
3129:
3124:
3119:
3114:
3109:
3104:
3099:
3094:
3089:
3084:
3079:
3074:
3069:
3064:
3059:
3054:
3049:
3044:
3039:
3034:
3029:
3023:
3021:
3013:
3012:
3010:
3009:
3004:
2998:
2996:
2988:
2987:
2985:
2984:
2979:
2974:
2968:
2966:
2958:
2957:
2955:
2954:
2948:
2946:
2938:
2937:
2935:
2934:
2929:
2924:
2919:
2914:
2909:
2904:
2898:
2896:
2885:
2879:
2878:
2875:
2874:
2872:
2871:
2866:
2865:
2864:
2859:
2849:
2843:
2837:
2833:
2832:
2829:
2828:
2826:
2825:
2819:
2816:
2815:
2813:
2812:
2806:
2804:
2796:
2795:
2793:
2792:
2787:
2782:
2776:
2774:
2764:
2763:
2761:
2760:
2755:
2750:
2744:
2742:
2732:
2731:
2729:
2728:
2723:
2718:
2713:
2708:
2703:
2698:
2692:
2690:
2677:
2671:
2670:
2667:
2666:
2664:
2663:
2658:
2653:
2648:
2643:
2637:
2635:
2627:
2626:
2624:
2623:
2618:
2613:
2607:
2605:
2595:
2594:
2592:
2591:
2586:
2580:
2578:
2568:
2567:
2565:
2564:
2558:
2556:
2546:
2545:
2543:
2542:
2537:
2532:
2527:
2521:
2519:
2506:
2504:Inner membrane
2500:
2499:
2497:
2496:
2491:
2485:
2483:
2477:
2476:
2473:
2472:
2470:
2469:
2463:
2461:
2449:
2448:
2446:
2445:
2439:
2437:
2426:
2425:
2423:
2422:
2417:
2411:
2409:
2396:
2394:Outer membrane
2390:
2389:
2383:
2381:
2380:
2373:
2366:
2358:
2352:
2351:
2346:
2339:
2338:External links
2336:
2334:
2333:
2288:
2266:10.1086/320591
2260:(6): 1475–84.
2245:
2210:
2165:
2122:
2085:
2057:Human Mutation
2052:
2030:
1995:
1942:
1889:
1844:
1798:
1752:
1715:
1685:
1642:
1610:Human Genetics
1604:
1569:
1540:
1502:
1500:
1497:
1494:
1493:
1475:
1457:
1428:(9): 1043–53.
1407:
1355:
1324:
1317:
1294:
1275:
1257:
1239:
1218:
1196:
1195:
1193:
1190:
1174:
1171:
1085:
1082:
1073:
1061:
1029:
1026:
966:
963:
895:
894:
891:
890:
885:
875:
874:
868:
867:
864:
863:
861:
859:
852:
851:
844:
837:
833:
832:
829:
828:
818:
817:
811:
808:
807:
799:
798:
792:
788:
787:
784:
783:
775:
774:
768:
765:
764:
756:
755:
749:
745:
744:
741:
740:
732:
731:
725:
722:
721:
713:
712:
706:
700:
699:
696:
695:
687:
686:
680:
677:
676:
668:
667:
661:
655:
654:
651:
650:
642:
641:
635:
632:
631:
623:
622:
616:
610:
609:
604:
599:
595:
594:
584:
583:
580:
579:
568:
567:
565:
564:
559:
554:
549:
544:
538:
536:
532:
531:
529:
528:
523:
518:
513:
508:
503:
497:
495:
491:
490:
488:
487:
482:
476:
474:
470:
469:
459:
458:
455:
454:
451:
450:
447:
446:
439:
433:
432:
429:
428:
420:
419:
416:
415:
413:
412:
408:
404:
400:
396:
392:
388:
384:
380:
376:
372:
369:
368:
357:
354:
353:
351:
350:
346:
342:
338:
334:
330:
326:
322:
318:
314:
313:gastric mucosa
310:
307:
306:
294:
293:
285:
274:
268:
267:
264:RNA expression
256:
255:
252:
251:
243:
239:
238:
230:
227:
222:
216:
215:
212:
211:
206:
200:
199:
191:
190:
178:
177:
174:
173:
165:
161:
160:
152:
149:
144:
138:
137:
134:
133:
126:
120:
119:
111:
110:
98:
97:
54:
50:
49:
41:
33:
32:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
3202:
3191:
3188:
3186:
3183:
3182:
3180:
3173:
3170:
3169:
3167:
3166:public domain
3163:
3151:
3150:
3143:
3133:
3130:
3128:
3125:
3123:
3120:
3118:
3115:
3113:
3110:
3108:
3105:
3103:
3100:
3098:
3095:
3093:
3090:
3088:
3085:
3083:
3080:
3078:
3075:
3073:
3070:
3068:
3065:
3063:
3060:
3058:
3055:
3053:
3050:
3048:
3045:
3043:
3040:
3038:
3035:
3033:
3030:
3028:
3025:
3024:
3022:
3019:
3014:
3008:
3005:
3003:
3000:
2999:
2997:
2994:
2989:
2983:
2980:
2978:
2975:
2973:
2970:
2969:
2967:
2964:
2959:
2953:
2950:
2949:
2947:
2944:
2939:
2933:
2930:
2928:
2925:
2923:
2920:
2918:
2915:
2913:
2910:
2908:
2905:
2903:
2900:
2899:
2897:
2894:
2889:
2886:
2884:
2880:
2870:
2867:
2863:
2860:
2858:
2855:
2854:
2853:
2850:
2848:
2845:
2844:
2841:
2838:
2834:
2824:
2821:
2820:
2817:
2811:
2808:
2807:
2805:
2802:
2797:
2791:
2788:
2786:
2783:
2781:
2778:
2777:
2775:
2772:
2771:
2765:
2759:
2756:
2754:
2751:
2749:
2746:
2745:
2743:
2740:
2739:
2733:
2727:
2724:
2722:
2719:
2717:
2714:
2712:
2709:
2707:
2704:
2702:
2699:
2697:
2694:
2693:
2691:
2688:
2687:
2681:
2678:
2676:
2672:
2662:
2659:
2657:
2654:
2652:
2649:
2647:
2644:
2642:
2639:
2638:
2636:
2633:
2628:
2622:
2619:
2617:
2614:
2612:
2609:
2608:
2606:
2603:
2602:
2596:
2590:
2587:
2585:
2582:
2581:
2579:
2576:
2575:
2569:
2563:
2560:
2559:
2557:
2554:
2553:
2547:
2541:
2538:
2536:
2533:
2531:
2528:
2526:
2523:
2522:
2520:
2517:
2516:
2510:
2507:
2505:
2501:
2495:
2492:
2490:
2487:
2486:
2484:
2482:
2478:
2468:
2465:
2464:
2462:
2459:
2456:
2450:
2444:
2441:
2440:
2438:
2435:
2433:
2427:
2421:
2418:
2416:
2413:
2412:
2410:
2407:
2406:
2400:
2397:
2395:
2391:
2386:
2385:Mitochondrial
2379:
2374:
2372:
2367:
2365:
2360:
2359:
2356:
2350:
2347:
2345:
2342:
2341:
2337:
2330:
2326:
2321:
2316:
2311:
2306:
2302:
2298:
2294:
2289:
2285:
2281:
2276:
2271:
2267:
2263:
2259:
2255:
2251:
2246:
2242:
2238:
2233:
2228:
2224:
2220:
2216:
2211:
2207:
2203:
2199:
2195:
2191:
2187:
2183:
2179:
2175:
2171:
2166:
2162:
2158:
2154:
2150:
2145:
2144:10.1038/13779
2140:
2136:
2132:
2128:
2123:
2119:
2115:
2111:
2107:
2103:
2099:
2096:(9): 745–52.
2095:
2091:
2086:
2082:
2078:
2074:
2070:
2066:
2062:
2058:
2053:
2049:
2045:
2042:(4): 233–40.
2041:
2037:
2031:
2027:
2023:
2018:
2013:
2010:(4): 703–11.
2009:
2005:
2001:
1996:
1992:
1988:
1983:
1978:
1973:
1968:
1964:
1960:
1956:
1952:
1948:
1943:
1939:
1935:
1930:
1925:
1920:
1915:
1911:
1907:
1903:
1899:
1895:
1890:
1886:
1882:
1878:
1874:
1870:
1866:
1862:
1858:
1854:
1850:
1845:
1841:
1837:
1833:
1829:
1825:
1821:
1817:
1813:
1809:
1805:
1799:
1795:
1791:
1787:
1783:
1779:
1775:
1771:
1767:
1763:
1759:
1753:
1749:
1745:
1741:
1737:
1733:
1729:
1725:
1721:
1716:
1712:
1708:
1704:
1700:
1697:(1): 518–25.
1696:
1692:
1686:
1682:
1678:
1673:
1668:
1664:
1660:
1657:(3): 1631–7.
1656:
1652:
1648:
1643:
1639:
1635:
1631:
1627:
1623:
1619:
1616:(2): 139–45.
1615:
1611:
1605:
1601:
1597:
1592:
1587:
1584:(3): 1551–7.
1583:
1579:
1575:
1570:
1566:
1562:
1558:
1554:
1551:(6): 339–45.
1550:
1546:
1541:
1537:
1533:
1529:
1525:
1521:
1517:
1514:(8): 2020–3.
1513:
1509:
1504:
1503:
1498:
1489:
1485:
1479:
1476:
1471:
1467:
1461:
1458:
1453:
1449:
1444:
1439:
1435:
1431:
1427:
1423:
1419:
1411:
1408:
1403:
1399:
1395:
1391:
1387:
1383:
1379:
1375:
1371:
1367:
1359:
1356:
1343:
1339:
1333:
1331:
1329:
1325:
1320:
1318:9780470547847
1314:
1310:
1303:
1301:
1299:
1295:
1290:
1284:
1282:
1280:
1276:
1271:
1267:
1261:
1258:
1253:
1249:
1243:
1240:
1236:
1232:
1227:
1225:
1223:
1219:
1215:
1211:
1206:
1204:
1202:
1198:
1191:
1189:
1187:
1184:
1180:
1172:
1170:
1168:
1164:
1160:
1155:
1151:
1147:
1143:
1142:Heart disease
1139:
1135:
1131:
1127:
1122:
1120:
1116:
1112:
1108:
1105:gene lead to
1104:
1099:
1095:
1091:
1083:
1081:
1079:
1071:
1067:
1059:
1055:
1051:
1047:
1043:
1039:
1035:
1027:
1025:
1022:
1019:domain and a
1018:
1017:transmembrane
1015:
1011:
1007:
1003:
999:
995:
991:
987:
983:
978:
976:
972:
964:
962:
960:
956:
952:
948:
944:
940:
936:
932:
929:
925:
921:
917:
910:
906:
901:
889:
884:
880:
876:
873:
869:
862:
860:
857:
853:
849:
845:
842:
838:
834:
827:
825:
819:
815:
812:
806:
800:
796:
793:
789:
782:
776:
772:
769:
763:
757:
753:
750:
748:RefSeq (mRNA)
746:
739:
738:
733:
729:
726:
720:
719:
714:
710:
707:
705:
701:
694:
693:
688:
684:
681:
675:
674:
669:
665:
662:
660:
656:
649:
648:
643:
639:
636:
630:
629:
624:
620:
617:
615:
611:
608:
605:
603:
600:
596:
593:
589:
585:
578:
574:
569:
563:
560:
558:
555:
553:
550:
548:
545:
543:
540:
539:
537:
534:
533:
527:
526:mitochondrion
524:
522:
519:
517:
514:
512:
509:
507:
504:
502:
499:
498:
496:
493:
492:
486:
483:
481:
478:
477:
475:
472:
471:
468:
467:Gene ontology
464:
460:
448:
443:
440:
438:
434:
426:
421:
410:
406:
402:
398:
394:
390:
386:
382:
379:adrenal gland
378:
374:
373:
370:
366:
361:
358:
348:
344:
340:
336:
332:
328:
325:right auricle
324:
320:
316:
312:
311:
308:
304:
299:
296:
295:
292:
290:
286:
284:
283:
279:
278:
275:
273:
269:
265:
261:
257:
249:
244:
240:
236:
231:
221:
217:
213:
205:
201:
197:
192:
188:
183:
179:
171:
166:
162:
158:
153:
143:
139:
135:
131:
125:
121:
117:
112:
108:
103:
99:
95:
91:
87:
83:
79:
75:
71:
67:
63:
59:
51:
46:
39:
34:
29:
25:
20:
3171:
3159:
3158:
3146:
2993:ATP synthase
2931:
2800:
2768:
2736:
2684:
2651:ATP synthase
2631:
2599:
2572:
2550:
2530:Cytochrome c
2513:
2453:
2443:Kynureninase
2430:
2403:
2300:
2297:BMC Genetics
2296:
2257:
2253:
2222:
2218:
2173:
2169:
2134:
2130:
2093:
2089:
2056:
2039:
2035:
2007:
2003:
1954:
1950:
1904:(2): 532–6.
1901:
1897:
1852:
1848:
1807:
1803:
1761:
1757:
1723:
1719:
1694:
1690:
1654:
1650:
1613:
1609:
1581:
1577:
1548:
1544:
1511:
1507:
1487:
1478:
1469:
1460:
1425:
1421:
1410:
1369:
1365:
1358:
1346:. Retrieved
1341:
1308:
1269:
1260:
1251:
1242:
1176:
1173:Interactions
1166:
1153:
1125:
1123:
1102:
1097:
1089:
1087:
1077:
1031:
979:
974:
970:
968:
946:
927:
915:
914:
908:
904:
821:
802:
778:
759:
735:
716:
690:
671:
645:
626:
606:
601:
403:human kidney
383:hypothalamus
287:
280:
53:External IDs
2943:Complex III
1021:hydrophilic
1014:hydrophobic
957:(LHON) and
511:respirasome
391:bone marrow
329:granulocyte
31:Identifiers
3179:Categories
2963:Complex IV
2770:urea cycle
2458:metabolism
2434:metabolism
2432:tryptophan
2137:(2): 147.
1237:, May 2017
1216:, May 2017
1192:References
1115:ubiquinone
1046:ubiquinone
291:(ortholog)
74:HomoloGene
3147:see also
2893:Complex I
2701:Aconitase
1163:complex I
1111:Complex I
1070:ubiquinol
1034:Complex I
1010:Complex I
965:Structure
824:NP_904339
592:Orthologs
82:GeneCards
3190:Proteins
2847:Frataxin
2721:Fumarase
2387:proteins
2329:11553319
2284:11349229
2241:11133798
2206:52850476
2198:11130070
2161:32212178
2153:10508508
2118:25865564
2110:10447650
2081:35198022
1794:32964006
1638:28048453
1565:16678300
1536:25888762
1528:23813926
1452:23965338
1348:23 March
1338:"MT-ND6"
1233:–
1212:–
1159:dystonia
1134:seizures
1028:Function
959:dystonia
872:Wikidata
571:Sources:
516:membrane
345:amygdala
3007:MT-ATP8
3002:MT-ATP6
2922:MT-ND4L
2275:1226134
2178:Bibcode
2073:9452107
2048:8854108
2026:8644732
2017:1914692
1991:8016139
1959:Bibcode
1938:7530363
1906:Bibcode
1885:4358928
1877:7219535
1857:Bibcode
1840:4355527
1832:7219534
1812:Bibcode
1786:3921850
1766:Bibcode
1748:3764430
1728:Bibcode
1720:Science
1711:2043137
1681:1996112
1630:1757091
1600:1417830
1443:4076475
1402:4355527
1394:7219534
1374:Bibcode
1235:Ensembl
1214:Ensembl
1056:of the
1002:MT-ND4L
931:protein
922:of the
704:UniProt
659:Ensembl
598:Species
577:QuickGO
337:putamen
266:pattern
246:14,070
233:13,552
168:14,673
155:14,149
38:Aliases
3112:MT-TS2
3107:MT-TS1
3077:MT-TL2
3072:MT-TL1
2982:MT-CO3
2977:MT-CO2
2972:MT-CO1
2952:MT-CYB
2932:MT-ND6
2927:MT-ND5
2917:MT-ND4
2912:MT-ND3
2907:MT-ND2
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1534:
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1440:
1400:
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1366:Nature
1315:
1186:YME1L1
1179:NDUFS3
1167:MT-ND6
1154:MT-ND6
1148:, and
1126:MT-ND6
1103:MT-ND6
1098:MT-ND6
1090:MT-ND6
1006:MT-ND5
1004:, and
998:MT-ND4
994:MT-ND3
990:MT-ND2
986:MT-ND1
975:MT-ND6
971:MT-ND6
947:MT-ND6
916:MT-ND6
909:MT-ND6
905:MT-ND6
858:search
856:PubMed
737:P03925
718:P03923
614:Entrez
437:BioGPS
349:fundus
70:102495
62:516006
3132:MT-TY
3127:MT-TW
3122:MT-TV
3117:MT-TT
3102:MT-TR
3097:MT-TQ
3092:MT-TP
3087:MT-TN
3082:MT-TM
3067:MT-TK
3062:MT-TI
3057:MT-TH
3052:MT-TG
3047:MT-TF
3042:MT-TE
3037:MT-TD
3032:MT-TC
3027:MT-TA
2823:PMPCB
2810:ALDH2
2632:other
2320:55343
2219:Brain
2202:S2CID
2157:S2CID
2114:S2CID
2077:S2CID
1982:44167
1929:42775
1881:S2CID
1836:S2CID
1790:S2CID
1634:S2CID
1532:S2CID
1398:S2CID
1072:(CoQH
918:is a
647:17722
607:Mouse
602:Human
573:Amigo
289:Mouse
282:Human
229:Start
187:Mouse
151:Start
107:Human
3018:tRNA
2325:PMID
2280:PMID
2237:PMID
2194:PMID
2149:PMID
2106:PMID
2069:PMID
2044:PMID
2022:PMID
1987:PMID
1934:PMID
1873:PMID
1828:PMID
1782:PMID
1744:PMID
1707:PMID
1677:PMID
1626:PMID
1596:PMID
1561:PMID
1524:PMID
1512:161A
1448:PMID
1390:PMID
1350:2015
1313:ISBN
1050:NADH
1038:NADH
969:The
920:gene
628:4541
272:Bgee
220:Band
204:Chr.
142:Band
124:Chr.
78:5022
58:OMIM
2315:PMC
2305:doi
2270:PMC
2262:doi
2227:doi
2223:124
2186:doi
2174:408
2139:doi
2098:doi
2094:237
2061:doi
2012:PMC
1977:PMC
1967:doi
1924:PMC
1914:doi
1865:doi
1853:290
1820:doi
1808:290
1774:doi
1762:314
1736:doi
1724:234
1699:doi
1695:177
1667:PMC
1659:doi
1618:doi
1586:doi
1582:187
1553:doi
1516:doi
1438:PMC
1430:doi
1426:113
1382:doi
1370:290
1044:to
804:n/a
780:n/a
761:n/a
445:n/a
242:End
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