Gene: [0Mh5904/MTCO1] cytochrome c oxidase subunit I (mitochondrial); myopathy, mitochondrial (MIM:220110); Alzheimer disease, late-onset (MIM:502500);


PAT

The specific missense mutations in the MTCO1 and GEM:0Mh7586/MTCO2 gene but not in GEM:0Mh9207/MTCO3 appeared to be associated with late-onset Alzheimer disease (Davis-1997)."

GEN

The gene length: 1.54 kb (1541 bp).

REF

PAT,MUT "Davis RE &: PNAS, 94, 4526-4531, 1997

SWI

SWISSPROT: P00395

KEY

mito, neu

CLA

coding, basic

LOC

0M H5904-7444

MIM

MIM: 516030

EZN

ENZYME: 1.9.3.1

Смотрите также:

  • 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