COA6 gene

cytochrome c oxidase assembly factor 6

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

From NCBI Gene:

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

From UniProt:

Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.

From NCBI Gene:

  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

From UniProt:

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4): An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. [MIM:616501]

Cytogenetic Location: 1q42.2, which is the long (q) arm of chromosome 1 at position 42.2

Molecular Location: base pairs 234,373,437 to 234,384,049 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.2, which is the long (q) arm of chromosome 1 at position 42.2
  • C1orf31
  • CEMCOX4