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

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