Entity Details

Primary name COQ4
Entity type gene
Source Source Link

Details

PrimaryID51117
RefseqGeneNG_042101
SymbolCOQ4
Namecoenzyme Q4
Chromosome9
Location9q34.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCOQ4_HUMAN

GO terms

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GOName
GO:0005739 mitochondrion
GO:0006744 ubiquinone biosynthetic process
GO:0031314 extrinsic component of mitochondrial inner membrane
GO:0032991 protein-containing complex

Diseases

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Disease IDSourceNameDescription
616276 OMIMCoenzyme Q10 deficiency, primary, 7 (COQ10D7)An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. The disease is caused by variants affecting the gene represented in this entry.