Aliases for COA6 Gene
External Ids for COA6 Gene
Previous HGNC Symbols for COA6 Gene
Previous GeneCards Identifiers for COA6 Gene
This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
GeneCards Summary for COA6 Gene
COA6 (Cytochrome C Oxidase Assembly Factor 6) is a Protein Coding gene. Diseases associated with COA6 include Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4 and Fatal Infantile Cytochrome C Oxidase Deficiency. Among its related pathways are Metabolism of proteins and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity.
UniProtKB/Swiss-Prot for COA6 Gene
Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.