Coenzyme Q9 (COQ9) Human Recombinant Protein

COQ9: Involved in the biosynthesis of coenzyme Q. Defects in COQ9 are the cause of coenzyme Q10 deficiency, primary, type 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. Belongs to the COQ9 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: lipid binding; protein binding; protein homodimerization activity

Biological Process: ubiquinone biosynthetic process

Disease: Coenzyme Q10 Deficiency, Primary, 5