Gene: [0Mh9207/MTCO3] cytochrome c oxidase subunit III (mitochondrial); cytochrome c oxidase deficiency with recurrent myoglobinuria; Leber optic atrophy due to cytochrome c oxidase III deficiency;
GEN | The gene length: 0.78 kb (784 bp). |
PAT | The first case of isolated COX deficiency defined at the molecular level was reported by Keightley-1996. On other forms of COX deficiency see in MIM:220110." |
REF | CLO,LOC,FAG "Anderson S &: Nature, 290, 457-465, 1981 PAT,MUT "Johns DR, Neufeld MJ: BBRC, 196, 810-815, 1993 PAT,MUT "Keightley JA &: Nature Genet, 12, 410-416, 1996 PAT,MUT "Oostra R-J &: AJHG, 57, 954-957, 1995 COD,SEQ "Suzuki H &: BBRC, 156, 987-994, 1988 |
SWI | SWISSPROT: P00414 |
KEY | mito, neu, eye |
CLA | coding, basic |
LOC | 0M H9207-9990 |
MIM | MIM: 516050 |
EZN | ENZYME: 1.9.3.1 |
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