Aliases for COX20 Gene
External Ids for COX20 Gene
Previous HGNC Symbols for COX20 Gene
Previous GeneCards Identifiers for COX20 Gene
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
GeneCards Summary for COX20 Gene
COX20 (COX20, Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with COX20 include Mitochondrial Complex Iv Deficiency and Hypotonia. Among its related pathways are Gene Expression and Metabolism.
UniProtKB/Swiss-Prot for COX20 Gene
Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053).