COQ8A

COQ8A (Coenzyme Q8A) is a Protein Coding gene. Diseases associated with COQ8A include Coenzyme Q10 Deficiency, Primary, 4 and Autosomal Recessive Cerebellar Ataxia. An important paralog of this gene is COQ8B.

Coenzyme Q8A

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 (PubMed:25498144, PubMed:27499294).

Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144).

Phosphorylation Source: UniProtKB
Protein phosphorylation Source: GOC
Ubiquinone biosynthetic process Source: UniProtKB

Mitochondrion; Membrane

Coenzyme Q10 deficiency, primary, 4 (COQ10D4):
An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures.

Helical: 214-230