Gene: [0Mh10760/MTND4] NADH dehydrogenase subunit 4 (mitochondrial); Leber hereditary optic neuropathy (LHON1; MIM:535000?);
GEN | The gene length: 1.38 kb (1378 bp). |
MUT | Leber's hereditary optic neuropathy is caused by a mutation in position 11778: G-->A replacement determines Arg-->His replacement. See also GEM:0Mh3307/MTND1(H03195)." |
REL | GEM:0Mh3307/MTND1. |
REF | PAT,HET "Chen JD &:
Hum Genet, 82, 203-207, 1989 PAT,MUT,POL "Vilkki J &: AJHG, 45, 206-211, 1989a PAT,MUT,POL "Vilkki J &: Hum Genet, 82, 208-212, 1989b PAT,MUT,POL "Wallace DC &: Science, 242, 1427-1430, 1988 PAT,MUT,POL "Yoneda M &: Lancet, 1, N8646, 1076-1077, 1989 |
SWI | SWISSPROT: P03905 |
KEY | mito, neu, eye |
CLA | coding, basic |
LOC | 0M H10760-12137 |
MIM | MIM: 516003 |
EZN | ENZYME: 1.6.5.3 |
