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 Isolated Cytochrome C Oxidase Deficiency and Mitochondrial Complex Iv Deficiency. Among its related pathways are Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..