Gene: [0Mh7586/MTCO2] cytochrome c oxidase subunit II (mitochondrial); Alzheimer disease, late-onset (MIM:502500);
PAT | The specific missense mutations in the GEM:0Mh5904/MTCO1 and MTCO2 gene but not in GEM:0Mh9207/MTCO3 appeared to be associated with late-onset Alzheimer disease (Davis-1997). Davis et al. suggested that a cytochrome c oxidase defect may represent a primary etiologic event, directly participating in the cascade of events that results in Alzheimer disease." |
GEN | The gene length: 0.68 kb (676 bp). |
REF | SEQ,FUN,GEN "Anderson S &: Nature, 290, 457-465, 1981 PAT,MUT,CAG "Davis RE &: PNAS, 94, 4526-4531, 1997 |
SWI | SWISSPROT: P00403 |
KEY | mito, neu |
CLA | coding, basic |
LOC | 0M H7586-8262 |
MIM | MIM: 516040 |
EZN | ENZYME: 1.9.3.1 |
