PET117 Chromosome 20
PET117 cytochrome c oxidase chaperone
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What This Gene Does
Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in mitochondrial complex IV deficiency nuclear type 19. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000232838
Associated Conditions (2)
Mitochondrial complex IV deficiency
nuclear type 19
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2037617604 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 19, Mitochondrial complex IV deficiency |