COQ9 gene

coenzyme Q9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]

From UniProt:

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.

From NCBI Gene:

  • Coenzyme Q10 deficiency, primary, 5

From UniProt:

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. [MIM:614654]

Cytogenetic Location: 16q21, which is the long (q) arm of chromosome 16 at position 21

Molecular Location: base pairs 57,447,425 to 57,461,275 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q21, which is the long (q) arm of chromosome 16 at position 21
  • C16orf49
  • COQ10D5