Gene: [11q1/COX8] cytochrome c oxidase subunit VIII (cytochrome a3/aa3); mitochondrial myopathy? (MIM:220110);
|
FUN |
The reaction catalyzed: 4 ferrocytochrome c + O(2) = 4 ferricytochrome c + 2 H(2)O." |
|
HET |
Several types of hereditary deficiency of the mitochondrial respiratory chain complex IV are known. Since total number of various peptides included in this complex approaches 20, one may expect a high degree of clinical genetic heterogeneity in the array of corresponding syndromes. A relationship with alterations of complex IV catalytic peptides encoded by three mitochondrial genes was demonstrated for some of them (those well-defined mitochondrial myopathy)." |
|
REF |
PRO,COD,LOC,EXP,EVO "Rizzuto R &: JBC, 264, N18, 10595-10600, 1989 |
|
KEY |
mito |
|
CLA |
coding, basic |
|
LOC |
11 q12-13 |
|
MIM |
MIM: 123870 |
|
EZN |
ENZYME: 1.9.3.1 |
