Aliases for COX14 Gene
External Ids for COX14 Gene
Previous HGNC Symbols for COX14 Gene
Previous GeneCards Identifiers for COX14 Gene
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]
GeneCards Summary for COX14 Gene
COX14 (COX14 Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with COX14 include mitochondrial complex iv deficiency and isolated cytochrome c oxidase deficiency. Among its related pathways are Gene Expression and Metabolism.
UniProtKB/Swiss-Prot for COX14 Gene
Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1.