1191:
DNA molecules. By allowing unwinding of the double helix, replication of mtDNA is achieved. Any form of mutation in twinkle protein can result in mtDNA disease. The disease can be categorized into two groups. The first category includes disease that impairs the respiratory function due to the primary mutation of the mtDNA; the second category is usually known as mtDNA maintenance disease. The cause of mtDNA maintenance diseases is the dysfunction of the replication and maintenance apparatus of mtDNA, programmed by nuclear genes. Infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) are associated with multiple deletions of mtDNA. PEO in humans and most mammals is associated with an eye disorder which involves the individual gradually losing the ability to move the eyes as well as the eyebrows. These disorders in recent times have been established to be occurring in the population, with the frequencies of single mutation projected to increase.
253:
230:
127:
152:
504:
259:
158:
1190:
The twinkle gene is an important protein that is involved in the synthesis and maintenance of mtDNA. The gene is located in the mitochondrial matrix and mitochondrial nucleotides. Twinkle protein serves as the mitochondrial DNA helicase that binds to DNA and aids in unwinding the double helix of the
1093:
In 2001, a team was able to identify the C10orf2 gene and named it twinkle due to its localization pattern that resembles twinkling stars. The presumed main function of twinkle is important for the lifetime regulation of the human mtDNA. The gene is expressed at high levels in skeletal muscles. The
1094:
gene encodes for a protein that has a full-length of 684 units of amino acids. The twinkle protein consists of 3 functional domains: a 5-primase domain, a linker region, and a helicase region. The linker and helicase regions are involved in most of the pathogenic mutations.
1181:
and later on in the child's life hearing loss, psychotic behavior, sensory axonal neutrophil ataxia, and additional neurological development problems. Before age one, a child develops normally and then the child starts to experience neurological deficits.
1296:
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. (July 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding
Twinkle, a phage T7 gene 4-like protein localized in mitochondria".
1850:
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M (April 2003). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)".
1136:
Their functions as a helicase include the binding of both single stranded DNA (ssDNA) and double stranded DNA (dsDNA), and catalyzing DNA unwinding. The energy required for DNA unwinding is supplied by the hydrolysis of
1075:(GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars. A homolog (
1153:
Mutations occurring on the TWNK gene are associated with health conditions such as
Perrault Syndrome, ataxia neuropathy spectrum, infantile-onset spinocerebellar ataxia, and most prominently progressive external
1106:. Each mitochondrion contains a small amount of DNA which is known as mitochondrial DNA (mtDNA). The Twinkle protein is involved in the production of mtDNA by functioning as an adenine nucleotide dependent DNA
1659:
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L (February 1995). "An autosomal locus predisposing to deletions of mitochondrial DNA".
1770:
Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H, Zeviani M (February 2003). "The V368i mutation in
Twinkle does not segregate with AdPEO".
1931:
Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW (September 2003). "A novel
Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia".
1379:
2245:
Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A (December 2007). "Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion".
2282:
Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G, Plewczynski D, Wolak T, Płoski R, Skarżyński H (February 2017).
1194:
Transgenic mice expressing both human PEO patient mutations and the wild-type mouse twinkle protein have progressive respiratory chain dysfunction due to accumulation of
266:
165:
2216:
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (July 2007). "Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle".
2136:
Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF (January 2005). "Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism".
742:
723:
88:
1733:
Lewis S, Hutchison W, Thyagarajan D, Dahl HH (September 2002). "Clinical and molecular features of adPEO due to mutations in the
Twinkle gene".
1162:
1275:
2337:
1257:
2101:
Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A (December 2004).
252:
59:, ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL, PRLTS5, C10orf2, chromosome 10 open reading frame 2, twinkle mtDNA helicase
1531:
1110:, an enzyme that binds to DNA and temporarily unwinds the double helix of the DNA molecule so that it can replicate. They also serve as
990:
1478:"The Arabidopsis At1g30680 gene encodes a homologue to the phage T7 gp4 protein that has both DNA primase and DNA helicase activities"
1133:
helicase (gp4); however, Twinkle and/ or Twinky are capable of both unwinding and recombining DNA making them bifunctional helicases.
997:
229:
1974:"TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein"
1437:
1244:
1223:
1122:
151:
126:
1240:
1595:
Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A (2005).
1145:. It has different binding affinities for each of its specific binding sites when binding either the ssDNA or the dsDNA.
1219:
68:
1597:"Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice"
1395:"Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky"
1890:"Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle"
265:
164:
1547:
258:
157:
1696:
Hirano M, DiMauro S (December 2001). "ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia".
787:
76:
1102:
The TWNK gene makes two proteins, Twinkle and Twinky. The proteins
Twinkle and Twinky are both found in the
768:
1138:
2060:"Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA"
1393:
Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L (October 2005).
1373:
1142:
140:
1169:
disease whose symptoms appear in children after one year of age. The symptoms of this disease include
1608:
1341:
55:
1118:
973:
969:
944:
936:
932:
928:
902:
898:
873:
865:
861:
857:
2284:"Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome"
2270:
2161:
2003:
1956:
1919:
1876:
1795:
1758:
1721:
1684:
1322:
100:
965:
940:
894:
869:
1807:
Garrido N, Griparic L, Jokitalo E, Wartiovaara J, van der Bliek AM, Spelbrink JN (April 2003).
2315:
2262:
2233:
2204:
2153:
2124:
2089:
2046:
1995:
1948:
1911:
1888:
Van
Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C (August 2003).
1868:
1838:
1787:
1750:
1713:
1676:
1636:
1577:
1509:
1416:
1361:
1314:
1195:
1166:
48:
2305:
2295:
2254:
2225:
2194:
2186:
2145:
2114:
2079:
2071:
2036:
2028:
1985:
1969:
1940:
1901:
1860:
1828:
1820:
1779:
1742:
1705:
1668:
1626:
1616:
1499:
1489:
1406:
1353:
1306:
1155:
345:
276:
220:
175:
2058:
Wanrooij S, Luoma P, van
Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN (2004).
1072:
503:
320:
96:
1612:
1572:. In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).
2310:
2283:
2199:
2174:
2149:
1864:
1631:
1596:
1504:
1477:
2084:
2059:
2041:
2016:
1944:
1833:
1808:
1746:
657:
652:
647:
642:
637:
632:
627:
622:
606:
601:
596:
580:
575:
570:
565:
560:
555:
550:
545:
2331:
2103:"Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number"
532:
2274:
2165:
2007:
1960:
1923:
1880:
1799:
1762:
1725:
1688:
1326:
80:
1103:
338:
117:
104:
1280:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1262:
National Center for
Biotechnology Information, U.S. National Library of Medicine
421:
2300:
2229:
2190:
1569:
1174:
237:
134:
84:
2032:
1824:
1621:
1494:
1178:
687:
481:
359:
304:
291:
203:
190:
92:
2319:
2266:
2237:
2208:
2157:
2128:
2093:
2050:
1999:
1990:
1973:
1952:
1915:
1872:
1842:
1791:
1754:
1717:
1709:
1640:
1581:
1513:
1420:
1365:
1318:
1071:
Twinkle is a mitochondrial protein with structural similarity to the phage
1680:
1117:
They function as hexameric or heptameric DNA helicases, which unwinds the
1037:
1032:
2119:
2102:
2075:
1411:
1394:
1342:"The bacterial replicative helicase DnaB evolved from a RecA duplication"
1130:
1107:
1077:
1021:
832:
813:
2175:"Modular architecture of the hexameric human mitochondrial DNA helicase"
1906:
1889:
1672:
1111:
1057:
799:
754:
2258:
1783:
1476:
Diray-Arce, J; Liu, B; Cupp, JD; Hunt, T; Nielsen, BL (4 March 2013).
1357:
1170:
1005:
709:
1458:
17:
1548:"TWNK twinkle mtDNA helicase [Homo sapiens (human)] - Gene"
1310:
1121:
in the 5’ to 3’ direction in short segments. The proteins unwind
672:
668:
1535:
1161:
One of the best known mutations of this gene is associated with
1126:
1061:
512:
72:
2015:
Korhonen JA, Pham XH, Pellegrini M, Falkenberg M (June 2004).
1068:
or PEO1) located in the long arm of chromosome 10 (10q24.31).
1809:"Composition and dynamics of human mitochondrial nucleoids"
1340:
Leipe DD, Aravind L, Grishin NV, Koonin EV (January 2000).
1438:"Entrez Gene: PEO1 progressive external ophthalmoplegia 1"
328:
1576:. University of Washington, Seattle. pp. 171–178.
1198:
deletions, but the phenotype does not reduce lifespan.
2017:"Reconstitution of a minimal mtDNA replisome in vitro"
493:
958:
921:
887:
850:
1236:
1234:
1232:
1215:
1213:
1211:
1378:: CS1 maint: DOI inactive as of September 2024 (
1123:single-stranded mitochondrial DNA binding protein
275:
174:
1570:"Infantile-Onset Spinocerebellar Ataxia (IOSCA)"
2173:Ziebarth TD, Farr CL, Kaguni LS (April 2007).
1291:
1289:
1241:GRCm38: Ensembl release 89: ENSMUSG00000025209
8:
1220:GRCh38: Ensembl release 89: ENSG00000107815
1453:
1451:
1449:
1447:
683:
528:
316:
215:
112:
2309:
2299:
2198:
2118:
2083:
2040:
1989:
1905:
1832:
1630:
1620:
1503:
1493:
1410:
658:DNA unwinding involved in DNA replication
1432:
1430:
1129:. These enzymes function similar to the
1207:
1371:
1163:infantile onset spinocerebellar ataxia
1060:that in humans is encoded by the TWNK
29:
1563:
1561:
1536:TWINKLE mtDNA HELICASE; TWNK - 606075
1527:
1525:
1523:
653:cellular response to glucose stimulus
280:
241:
236:
179:
138:
133:
7:
1735:Journal of the Neurological Sciences
1177:, loss of deep-tendon reflexes, and
1978:The Journal of Biological Chemistry
1532:Online Mendelian Inheritance in Man
2150:10.1212/01.WNL.0000149767.51152.83
1865:10.1212/01.wnl.0000056088.09408.3c
1114:able to initiate DNA replication.
955:
918:
884:
847:
823:
804:
778:
759:
733:
714:
498:
416:
354:
333:
25:
2288:Journal of Translational Medicine
502:
264:
257:
251:
228:
163:
156:
150:
125:
1085:chloroplast and mitochondria.
513:More reference expression data
482:More reference expression data
1:
1945:10.1016/S0960-8966(03)00071-3
1813:Molecular Biology of the Cell
1747:10.1016/S0022-510X(02)00190-9
643:mitochondrial DNA replication
249:
148:
2338:Genes on human chromosome 10
2179:Journal of Molecular Biology
638:protein homooligomerization
623:mitochondrial transcription
581:5'-3' DNA helicase activity
576:single-stranded DNA binding
27:Human mitochondrial protein
2354:
991:Chr 10: 100.99 – 100.99 Mb
633:mitochondrion organization
444:superior cervical ganglion
402:mucosa of transverse colon
2301:10.1186/s12967-017-1129-4
2230:10.1001/archneur.64.7.998
2191:10.1016/j.jmb.2007.01.079
1276:"Mouse PubMed Reference:"
1258:"Human PubMed Reference:"
1036:
1031:
1027:
1020:
1004:
985:
962:
925:
914:
891:
854:
843:
830:
826:
811:
807:
798:
785:
781:
766:
762:
753:
740:
736:
721:
717:
708:
693:
686:
682:
666:
531:
527:
510:
501:
492:
479:
428:
419:
366:
357:
327:
319:
315:
298:
285:
248:
227:
218:
214:
197:
184:
147:
124:
115:
111:
66:
63:
53:
46:
41:
37:
32:
2107:Human Molecular Genetics
2033:10.1038/sj.emboj.7600257
1968:Korhonen JA, Gaspari M,
1601:Proc Natl Acad Sci U S A
1399:Human Molecular Genetics
1933:Neuromuscular Disorders
1825:10.1091/mbc.E02-07-0399
1622:10.1073/pnas.0505551102
1495:10.1186/1471-2229-13-36
1463:Genetics Home Reference
1360:(inactive 2024-09-12).
436:interventricular septum
2064:Nucleic Acids Research
1991:10.1074/jbc.M306981200
1710:10.1212/wnl.57.12.2163
1165:or IOSCA. IOSCA is a
1127:mtDNA polymerase gamma
1054:twinkle mtDNA helicase
648:protein hexamerization
602:mitochondrial nucleoid
282:19 C3|19 38.19 cM
2218:Archives of Neurology
1186:Clinical significance
998:Chr 19: 44.99 – 45 Mb
556:DNA helicase activity
243:Chromosome 19 (mouse)
141:Chromosome 10 (human)
1568:Lönnqvist T (2016).
1083:Arabidopsis thaliana
597:mitochondrial matrix
374:gastrocnemius muscle
2247:Annals of Neurology
1772:Annals of Neurology
1613:2005PNAS..10217687T
1149:Disease association
1119:double-stranded DNA
1073:T7 primase/helicase
1056:is a mitochondrial
406:right adrenal gland
398:left adrenal cortex
386:ganglionic eminence
2120:10.1093/hmg/ddh342
2076:10.1093/nar/gkh634
1907:10.1002/humu.10246
1673:10.1038/ng0295-146
1412:10.1093/hmg/ddi328
788:ENSMUSG00000025209
616:Biological process
590:Cellular component
561:hydrolase activity
551:nucleotide binding
539:Molecular function
394:left adrenal gland
2259:10.1002/ana.21207
1972:(December 2003).
1784:10.1002/ana.10430
1482:BMC Plant Biology
1358:10.1101/gr.10.1.5
1167:neurodegenerative
1047:
1046:
1043:
1042:
1016:
1015:
981:
980:
952:
951:
910:
909:
881:
880:
839:
838:
820:
819:
794:
793:
775:
774:
749:
748:
730:
729:
678:
677:
571:helicase activity
523:
522:
519:
518:
488:
487:
475:
474:
413:
412:
311:
310:
210:
209:
16:(Redirected from
2345:
2323:
2313:
2303:
2278:
2241:
2212:
2202:
2169:
2132:
2122:
2097:
2087:
2054:
2044:
2021:The EMBO Journal
2011:
1993:
1984:(49): 48627–32.
1964:
1927:
1909:
1884:
1846:
1836:
1803:
1766:
1729:
1692:
1645:
1644:
1634:
1624:
1607:(49): 17687–92.
1592:
1586:
1585:
1565:
1556:
1555:
1544:
1538:
1529:
1518:
1517:
1507:
1497:
1473:
1467:
1466:
1455:
1442:
1441:
1434:
1425:
1424:
1414:
1390:
1384:
1383:
1377:
1369:
1337:
1331:
1330:
1293:
1284:
1283:
1272:
1266:
1265:
1254:
1248:
1238:
1227:
1217:
1080:
1029:
1028:
1000:
993:
976:
956:
947:
919:
915:RefSeq (protein)
905:
885:
876:
848:
824:
805:
779:
760:
734:
715:
684:
546:protease binding
529:
515:
506:
499:
484:
460:ventricular zone
424:
422:Top expressed in
417:
378:ventricular zone
362:
360:Top expressed in
355:
334:
317:
307:
294:
283:
268:
261:
255:
244:
232:
216:
206:
193:
182:
167:
160:
154:
143:
129:
113:
107:
105:TWNK - orthologs
58:
51:
30:
21:
2353:
2352:
2348:
2347:
2346:
2344:
2343:
2342:
2328:
2327:
2326:
2281:
2244:
2224:(7): 998–1000.
2215:
2172:
2135:
2113:(24): 3219–27.
2100:
2070:(10): 3053–64.
2057:
2014:
1967:
1939:(7–8): 568–72.
1930:
1887:
1849:
1806:
1769:
1732:
1695:
1661:Nature Genetics
1658:
1654:
1652:Further reading
1649:
1648:
1594:
1593:
1589:
1567:
1566:
1559:
1546:
1545:
1541:
1530:
1521:
1475:
1474:
1470:
1457:
1456:
1445:
1436:
1435:
1428:
1405:(20): 2981–90.
1392:
1391:
1387:
1370:
1346:Genome Research
1339:
1338:
1334:
1299:Nature Genetics
1295:
1294:
1287:
1274:
1273:
1269:
1256:
1255:
1251:
1239:
1230:
1218:
1209:
1204:
1188:
1156:ophthalmoplegia
1151:
1100:
1091:
1076:
1064:(also known as
1050:Twinkle protein
1038:View/Edit Mouse
1033:View/Edit Human
996:
989:
986:Location (UCSC)
972:
968:
964:
943:
939:
935:
931:
927:
901:
897:
893:
872:
868:
864:
860:
856:
769:ENSG00000107815
662:
628:DNA replication
611:
585:
511:
480:
471:
466:
462:
458:
454:
450:
448:muscle of thigh
446:
442:
438:
434:
420:
409:
404:
400:
396:
392:
388:
384:
380:
376:
372:
358:
302:
289:
281:
271:
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269:
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219:Gene location (
201:
188:
180:
170:
169:
168:
161:
139:
116:Gene location (
67:
54:
47:
28:
23:
22:
15:
12:
11:
5:
2351:
2349:
2341:
2340:
2330:
2329:
2325:
2324:
2279:
2242:
2213:
2185:(5): 1382–91.
2170:
2133:
2098:
2055:
2027:(12): 2423–9.
2012:
1965:
1928:
1894:Human Mutation
1885:
1847:
1819:(4): 1583–96.
1804:
1767:
1741:(1–2): 39–44.
1730:
1704:(12): 2163–5.
1693:
1655:
1653:
1650:
1647:
1646:
1587:
1557:
1539:
1519:
1468:
1443:
1426:
1385:
1332:
1285:
1267:
1249:
1228:
1206:
1205:
1203:
1200:
1187:
1184:
1150:
1147:
1099:
1096:
1090:
1087:
1081:) is found in
1052:also known as
1045:
1044:
1041:
1040:
1035:
1025:
1024:
1018:
1017:
1014:
1013:
1011:
1009:
1002:
1001:
994:
987:
983:
982:
979:
978:
960:
959:
953:
950:
949:
923:
922:
916:
912:
911:
908:
907:
889:
888:
882:
879:
878:
852:
851:
845:
841:
840:
837:
836:
828:
827:
821:
818:
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809:
808:
802:
796:
795:
792:
791:
783:
782:
776:
773:
772:
764:
763:
757:
751:
750:
747:
746:
738:
737:
731:
728:
727:
719:
718:
712:
706:
705:
700:
695:
691:
690:
680:
679:
676:
675:
664:
663:
661:
660:
655:
650:
645:
640:
635:
630:
625:
619:
617:
613:
612:
610:
609:
604:
599:
593:
591:
587:
586:
584:
583:
578:
573:
568:
563:
558:
553:
548:
542:
540:
536:
535:
525:
524:
521:
520:
517:
516:
508:
507:
496:
490:
489:
486:
485:
477:
476:
473:
472:
470:
469:
465:
464:abdominal wall
461:
457:
453:
449:
445:
441:
440:autopod region
437:
433:
429:
426:
425:
414:
411:
410:
408:
407:
403:
399:
395:
391:
387:
383:
379:
375:
371:
367:
364:
363:
351:
350:
342:
331:
325:
324:
321:RNA expression
313:
312:
309:
308:
300:
296:
295:
287:
284:
279:
273:
272:
263:
256:
250:
246:
245:
240:
234:
233:
225:
224:
212:
211:
208:
207:
199:
195:
194:
186:
183:
178:
172:
171:
162:
155:
149:
145:
144:
137:
131:
130:
122:
121:
109:
108:
65:
61:
60:
52:
44:
43:
39:
38:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2350:
2339:
2336:
2335:
2333:
2321:
2317:
2312:
2307:
2302:
2297:
2293:
2289:
2285:
2280:
2276:
2272:
2268:
2264:
2260:
2256:
2253:(6): 579–87.
2252:
2248:
2243:
2239:
2235:
2231:
2227:
2223:
2219:
2214:
2210:
2206:
2201:
2196:
2192:
2188:
2184:
2180:
2176:
2171:
2167:
2163:
2159:
2155:
2151:
2147:
2143:
2139:
2134:
2130:
2126:
2121:
2116:
2112:
2108:
2104:
2099:
2095:
2091:
2086:
2081:
2077:
2073:
2069:
2065:
2061:
2056:
2052:
2048:
2043:
2038:
2034:
2030:
2026:
2022:
2018:
2013:
2009:
2005:
2001:
1997:
1992:
1987:
1983:
1979:
1975:
1971:
1966:
1962:
1958:
1954:
1950:
1946:
1942:
1938:
1934:
1929:
1925:
1921:
1917:
1913:
1908:
1903:
1899:
1895:
1891:
1886:
1882:
1878:
1874:
1870:
1866:
1862:
1859:(8): 1354–6.
1858:
1854:
1848:
1844:
1840:
1835:
1830:
1826:
1822:
1818:
1814:
1810:
1805:
1801:
1797:
1793:
1789:
1785:
1781:
1777:
1773:
1768:
1764:
1760:
1756:
1752:
1748:
1744:
1740:
1736:
1731:
1727:
1723:
1719:
1715:
1711:
1707:
1703:
1699:
1694:
1690:
1686:
1682:
1678:
1674:
1670:
1667:(2): 146–51.
1666:
1662:
1657:
1656:
1651:
1642:
1638:
1633:
1628:
1623:
1618:
1614:
1610:
1606:
1602:
1598:
1591:
1588:
1583:
1579:
1575:
1571:
1564:
1562:
1558:
1553:
1549:
1543:
1540:
1537:
1533:
1528:
1526:
1524:
1520:
1515:
1511:
1506:
1501:
1496:
1491:
1487:
1483:
1479:
1472:
1469:
1464:
1460:
1454:
1452:
1450:
1448:
1444:
1439:
1433:
1431:
1427:
1422:
1418:
1413:
1408:
1404:
1400:
1396:
1389:
1386:
1381:
1375:
1367:
1363:
1359:
1355:
1351:
1347:
1343:
1336:
1333:
1328:
1324:
1320:
1316:
1312:
1311:10.1038/90058
1308:
1305:(3): 223–31.
1304:
1300:
1292:
1290:
1286:
1281:
1277:
1271:
1268:
1263:
1259:
1253:
1250:
1246:
1242:
1237:
1235:
1233:
1229:
1225:
1221:
1216:
1214:
1212:
1208:
1201:
1199:
1197:
1192:
1185:
1183:
1180:
1176:
1172:
1168:
1164:
1159:
1157:
1148:
1146:
1144:
1140:
1134:
1132:
1128:
1124:
1120:
1115:
1113:
1109:
1105:
1097:
1095:
1088:
1086:
1084:
1079:
1074:
1069:
1067:
1063:
1059:
1055:
1051:
1039:
1034:
1030:
1026:
1023:
1019:
1012:
1010:
1007:
1003:
999:
995:
992:
988:
984:
977:
975:
971:
967:
961:
957:
954:
948:
946:
942:
938:
934:
930:
924:
920:
917:
913:
906:
904:
900:
896:
890:
886:
883:
877:
875:
871:
867:
863:
859:
853:
849:
846:
844:RefSeq (mRNA)
842:
835:
834:
829:
825:
822:
816:
815:
810:
806:
803:
801:
797:
790:
789:
784:
780:
777:
771:
770:
765:
761:
758:
756:
752:
745:
744:
739:
735:
732:
726:
725:
720:
716:
713:
711:
707:
704:
701:
699:
696:
692:
689:
685:
681:
674:
670:
665:
659:
656:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
629:
626:
624:
621:
620:
618:
615:
614:
608:
607:mitochondrion
605:
603:
600:
598:
595:
594:
592:
589:
588:
582:
579:
577:
574:
572:
569:
567:
564:
562:
559:
557:
554:
552:
549:
547:
544:
543:
541:
538:
537:
534:
533:Gene ontology
530:
526:
514:
509:
505:
500:
497:
495:
491:
483:
478:
467:
463:
459:
455:
451:
447:
443:
439:
435:
431:
430:
427:
423:
418:
415:
405:
401:
397:
393:
389:
385:
381:
377:
373:
369:
368:
365:
361:
356:
353:
352:
349:
347:
343:
341:
340:
336:
335:
332:
330:
326:
322:
318:
314:
306:
301:
297:
293:
288:
278:
274:
267:
260:
254:
247:
239:
235:
231:
226:
222:
217:
213:
205:
200:
196:
192:
187:
177:
173:
166:
159:
153:
146:
142:
136:
132:
128:
123:
119:
114:
110:
106:
102:
98:
94:
90:
86:
82:
78:
74:
70:
62:
57:
50:
45:
40:
36:
31:
19:
2291:
2287:
2250:
2246:
2221:
2217:
2182:
2178:
2144:(2): 371–3.
2141:
2137:
2110:
2106:
2067:
2063:
2024:
2020:
1981:
1977:
1970:Falkenberg M
1936:
1932:
1900:(2): 175–6.
1897:
1893:
1856:
1852:
1816:
1812:
1775:
1771:
1738:
1734:
1701:
1697:
1664:
1660:
1604:
1600:
1590:
1573:
1551:
1542:
1485:
1481:
1471:
1462:
1402:
1398:
1388:
1374:cite journal
1349:
1345:
1335:
1302:
1298:
1279:
1270:
1261:
1252:
1193:
1189:
1160:
1152:
1135:
1116:
1104:mitochondria
1101:
1092:
1082:
1070:
1065:
1053:
1049:
1048:
974:NP_001335188
970:NP_001335183
963:
945:NP_001355204
937:NP_001157286
933:NP_001157285
929:NP_001157284
926:
903:NM_001348259
899:NM_001348254
892:
874:NM_001368275
866:NM_001163814
862:NM_001163813
858:NM_001163812
855:
831:
812:
786:
767:
741:
722:
702:
697:
468:otic vesicle
452:cumulus cell
344:
337:
202:100,994,403
189:100,987,367
64:External IDs
1574:GeneReviews
1459:"TWNK gene"
1352:(1): 5–16.
566:ATP binding
303:45,001,201
290:44,994,102
42:Identifiers
1778:(2): 278.
1247:, May 2017
1226:, May 2017
1202:References
1175:hypertonia
348:(ortholog)
85:HomoloGene
2294:(1): 25.
2138:Neurology
1853:Neurology
1698:Neurology
1179:athetosis
1173:, muscle
1089:Discovery
966:NP_722491
941:NP_068602
895:NM_153796
870:NM_021830
688:Orthologs
93:GeneCards
2332:Category
2320:28178980
2275:30878068
2267:17722119
2238:17620490
2209:17324440
2166:36540686
2158:15668446
2129:15509589
2094:15181170
2051:15167897
2008:12598297
2000:12975372
1961:23020569
1953:12921794
1924:35604757
1916:12872260
1881:31209510
1873:12707443
1843:12686611
1800:12656289
1792:12557300
1763:44270654
1755:12163192
1726:42784334
1718:11756592
1689:32160642
1641:16301523
1582:20301746
1534:(OMIM):
1514:23452619
1421:16135556
1366:10645945
1327:22237030
1319:11431692
1243:–
1222:–
1131:T7 phage
1112:primases
1108:helicase
1098:Function
1022:Wikidata
667:Sources:
432:epiblast
370:testicle
181:10q24.31
2311:5299684
2200:2711006
1681:7719341
1632:1308896
1609:Bibcode
1505:3610141
1245:Ensembl
1224:Ensembl
1066:C10orf2
1058:protein
800:UniProt
755:Ensembl
694:Species
673:QuickGO
323:pattern
81:2137410
49:Aliases
2318:
2308:
2273:
2265:
2236:
2207:
2197:
2164:
2156:
2127:
2092:
2085:434440
2082:
2049:
2042:423294
2039:
2006:
1998:
1959:
1951:
1922:
1914:
1879:
1871:
1841:
1834:153124
1831:
1798:
1790:
1761:
1753:
1724:
1716:
1687:
1679:
1639:
1629:
1580:
1512:
1502:
1488:: 36.
1419:
1364:
1325:
1317:
1171:ataxia
1078:B5X582
1008:search
1006:PubMed
833:Q8CIW5
814:Q96RR1
743:226153
710:Entrez
494:BioGPS
390:glutes
73:606075
2271:S2CID
2162:S2CID
2004:S2CID
1957:S2CID
1920:S2CID
1877:S2CID
1796:S2CID
1759:S2CID
1722:S2CID
1685:S2CID
1323:S2CID
1196:mtDNA
724:56652
703:Mouse
698:Human
669:Amigo
382:gonad
346:Mouse
339:Human
286:Start
221:Mouse
185:Start
118:Human
89:11052
2316:PMID
2263:PMID
2234:PMID
2205:PMID
2154:PMID
2125:PMID
2090:PMID
2047:PMID
1996:PMID
1949:PMID
1912:PMID
1869:PMID
1839:PMID
1788:PMID
1751:PMID
1714:PMID
1677:PMID
1637:PMID
1578:PMID
1552:NCBI
1510:PMID
1417:PMID
1380:link
1362:PMID
1315:PMID
1125:and
1062:gene
456:foot
329:Bgee
277:Band
238:Chr.
176:Band
135:Chr.
97:TWNK
69:OMIM
56:TWNK
33:TWNK
18:TWNK
2306:PMC
2296:doi
2255:doi
2226:doi
2195:PMC
2187:doi
2183:367
2146:doi
2115:doi
2080:PMC
2072:doi
2037:PMC
2029:doi
1986:doi
1982:278
1941:doi
1902:doi
1861:doi
1829:PMC
1821:doi
1780:doi
1743:doi
1739:201
1706:doi
1669:doi
1627:PMC
1617:doi
1605:102
1500:PMC
1490:doi
1407:doi
1354:doi
1307:doi
1143:ADP
1141:to
1139:ATP
299:End
198:End
101:OMA
77:MGI
2334::
2314:.
2304:.
2292:15
2290:.
2286:.
2269:.
2261:.
2251:62
2249:.
2232:.
2222:64
2220:.
2203:.
2193:.
2181:.
2177:.
2160:.
2152:.
2142:64
2140:.
2123:.
2111:13
2109:.
2105:.
2088:.
2078:.
2068:32
2066:.
2062:.
2045:.
2035:.
2025:23
2023:.
2019:.
2002:.
1994:.
1980:.
1976:.
1955:.
1947:.
1937:13
1935:.
1918:.
1910:.
1898:22
1896:.
1892:.
1875:.
1867:.
1857:60
1855:.
1837:.
1827:.
1817:14
1815:.
1811:.
1794:.
1786:.
1776:53
1774:.
1757:.
1749:.
1737:.
1720:.
1712:.
1702:57
1700:.
1683:.
1675:.
1663:.
1635:.
1625:.
1615:.
1603:.
1599:.
1560:^
1550:.
1522:^
1508:.
1498:.
1486:13
1484:.
1480:.
1461:.
1446:^
1429:^
1415:.
1403:14
1401:.
1397:.
1376:}}
1372:{{
1350:10
1348:.
1344:.
1321:.
1313:.
1303:28
1301:.
1288:^
1278:.
1260:.
1231:^
1210:^
1158:.
671:/
305:bp
292:bp
204:bp
191:bp
99:;
95::
91:;
87::
83:;
79::
75:;
71::
2322:.
2298::
2277:.
2257::
2240:.
2228::
2211:.
2189::
2168:.
2148::
2131:.
2117::
2096:.
2074::
2053:.
2031::
2010:.
1988::
1963:.
1943::
1926:.
1904::
1883:.
1863::
1845:.
1823::
1802:.
1782::
1765:.
1745::
1728:.
1708::
1691:.
1671::
1665:9
1643:.
1619::
1611::
1584:.
1554:.
1516:.
1492::
1465:.
1440:.
1423:.
1409::
1382:)
1368:.
1356::
1329:.
1309::
1282:.
1264:.
223:)
120:)
103::
20:)
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