Skip to content
GenoLensGenoLens

COA1

Chr 7p13

cytochrome c oxidase assembly factor 1

Aliases:
FLJ10803, MITRAC15
MANE:
ENST00000223336.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Mitochondrial disorder with complex IV deficiency

    Unknown
  • Possible mitochondrial disorder - nuclear genes

    Unknown
  • Likely inborn error of metabolism

    Unknown
  • Mitochondrial disorders

Disease associations (Open Targets)

  • liver disorder

    0.24
  • patellar tendinitis

    0.22
  • neurodegenerative disease

    0.19
  • colorectal carcinoma

    0.07
  • neoplasm

    0.05
  • cancer

    0.05
  • colorectal cancer

    0.02
  • giant cell tumor

    0.01
  • metastatic malignant neoplasm in the lymph nodes

    0.01
  • COVID-19

    0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome c oxidase assembly factor 1 homolog

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV (PubMed:23260140). As part of the MCIA complex, required for efficient assembly of the mitochondrial complex I (PubMed:32320651)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.