DISEASES

Disease-gene associations mined from literature

Literature associating COQ8A and X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

COQ8A [ENSP00000355741]

Atypical kinase COQ8A, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144, PubMed:21296186, PubMed:25540914, PubMed:27499294). Its substrate specificity is unclear: does not show any protein kinase activity (PubMed:25498144, PubMed:27499294). Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates . Shows an unusual selectivity for binding ADP over ATP .

Synonyms:  COQ8A,  COQ8Ap,  hCOQ8A,  A0A024R3S3,  CABC1 ...

Linkouts:  STRING  Pharos  UniProt