COQ9

Structurally similar to the bacterial FadR protein (fatty acid metabolism regulator protein).

Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.

Coenzyme Q10 deficiency, primary, 5

COQ10D5

A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.

None

The disease is caused by variants affecting the gene represented in this entry.

Cofactor biosynthesis; ubiquinone biosynthesis.

In response to mitochondrial stress, the precursor protein is ubiquitinated by the SIFI complex in the cytoplasm before mitochondrial import, leading to its degradation (PubMed:38297121). Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1 (PubMed:38297121).

Belongs to the COQ9 family.

• Mitochondrion

C16orf49, HSPC326, PSEC0129, COQ9

• entrezGene:57017
• omim:612837
• swissprot:O75208

Proteins

35509Da