Aliases for COA8 Gene
External Ids for COA8 Gene
Previous HGNC Symbols for COA8 Gene
Previous GeneCards Identifiers for COA8 Gene
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary for COA8 Gene
COA8 (Cytochrome C Oxidase Assembly Factor 8) is a Protein Coding gene. Diseases associated with COA8 include Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy and Mitochondrial Complex Iv Deficiency.
UniProtKB/Swiss-Prot Summary for COA8 Gene
Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain.