Aliases for COA5 Gene
External Ids for COA5 Gene
Previous HGNC Symbols for COA5 Gene
Previous GeneCards Identifiers for COA5 Gene
This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
GeneCards Summary for COA5 Gene
COA5 (Cytochrome C Oxidase Assembly Factor 5) is a Protein Coding gene. Diseases associated with COA5 include Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 3 and Fatal Infantile Cytochrome C Oxidase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..
UniProtKB/Swiss-Prot for COA5 Gene
Involved in an early step of the mitochondrial complex IV assembly process.