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 Mitochondrial protein import. GO annotations related to this gene include poly(A) RNA binding and 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.