Gene Symbol | COX14 |
Entrez Gene ID | 84987 |
Full Name | COX14, cytochrome c oxidase assembly factor |
Synonyms | C12orf62,PCAG1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Mitochondrial complex IV deficiency, 220110 (3) |