COA8 gene

cytochrome c oxidase assembly factor 8

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

From NCBI Gene:

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

From UniProt:

Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

From UniProt:

Mitochondrial complex IV deficiency (MT-C4D): A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. [MIM:220110]

Cytogenetic Location: 14q32.33, which is the long (q) arm of chromosome 14 at position 32.33

Molecular Location: base pairs 103,562,960 to 103,593,214 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q32.33, which is the long (q) arm of chromosome 14 at position 32.33
  • APOP
  • APOP1
  • APOPT1
  • C14orf153