XB-FEAT-6041251

cox20

This is the community wiki page for the gene cox20 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

06.26.2018

Human name has changed for Entrez Gene: 116228. From COX20, cytochrome c oxidase assembly factor to cytochrome c oxidase assembly factor COX20

Summary

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]