COQ7 gene

coenzyme Q7, hydroxylase

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

From NCBI Gene:

The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

From UniProt:

Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner.

From NCBI Gene:

  • Coenzyme Q10 deficiency, primary, 8

From UniProt:

Coenzyme Q10 deficiency, primary, 8 (COQ10D8): An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. [MIM:616733]

Cytogenetic Location: 16p12.3, which is the short (p) arm of chromosome 16 at position 12.3

Molecular Location: base pairs 19,067,595 to 19,083,097 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p12.3, which is the short (p) arm of chromosome 16 at position 12.3
  • CAT5
  • CLK-1
  • CLK1
  • COQ10D8