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 |
Ссылки:
- Gene superfamily: cytochrome c oxidase; (MTCO1 MTCO2 MTCO3 COX4 COX4P1 COX5A COX5B COX5BL1 COX5BL2 COX5BL3 COX5BL4 COX5BL5 COX5BL6 COX5BL7 COX6A1 COX6A2 COX6B COX6BP1 COX6BP2 COX6BP3 COX6BP4 COX6C COX7A1 COX7A2 COX7A3 COX7B COX7C COX8 COX10
- Gene: [0Mh7586/MTCO2] cytochrome c oxidase subunit II (mitochondrial); Alzheimer disease, late-onset (MIM:502500);
- MTCO3 белок митохондрий дрожжей
- Gene: [0Mh5904/MTCO1] cytochrome c oxidase subunit I (mitochondrial); myopathy, mitochondrial (MIM:220110); Alzheimer disease, late-onset (MIM:502500);
