COX14 Chromosome 12
Cytochrome c oxidase assembly factor COX14
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What This Gene Does
This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000178449
Associated Conditions (2)
Mitochondrial complex IV deficiency
nuclear type 10
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS34028295 | Health Risk | Likely pathogenic | — |
| RS587776904 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 10, Mitochondrial complex IV deficiency |