COQ7

COQ7 (Coenzyme Q7, Hydroxylase) is a Protein Coding gene. Diseases associated with COQ7 include Coenzyme Q10 Deficiency, Primary, 8. Among its related pathways are Ubiquinol biosynthesis and Metabolism.

Full Name

Coenzyme Q7, Hydroxylase

Function

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.

Biological Process

Determination of adult lifespan Source: GO_Central
Negative regulation of transcription by RNA polymerase II Source: WormBase
Positive regulation of transcription by RNA polymerase II Source: WormBase
Regulation of gene expression Source: GO_Central
Regulation of reactive oxygen species metabolic process Source: WormBase
Ubiquinone biosynthetic process Source: GO_Central

Cellular Location

Mitochondrion inner membrane

Involvement in disease

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.