COX20 gene

COX20, cytochrome c oxidase assembly factor

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

Cytogenetic Location: 1q44, which is the long (q) arm of chromosome 1 at position 44

Molecular Location: base pairs 244,835,306 to 244,845,063 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q44, which is the long (q) arm of chromosome 1 at position 44
  • FAM36A