COA5

cytochrome c oxidase assembly factor 5

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

From NCBI Gene:

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

From UniProt:

Involved in an early step of the mitochondrial complex IV assembly process.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cytochrome-c oxidase deficiency
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

From UniProt:

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3): An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. [MIM:616500]

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 98,599,323 to 98,608,518 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2
  • 6330578E17Rik
  • C2orf64
  • CEMCOX3
  • Pet191