Rabbit anti-Human COQ6 Polyclonal Antibody

Uniprot Id

Q9Y2Z9

Target Species

Human

Target Name

COQ6

Target Full Name

Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial

Target Function

FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoic acid (HHB) to 3-hexaprenyl-4,5-dihydroxybenzoic acid (DHHB). The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6. Is able to perform the deamination reaction at C4 of 3-hexaprenyl-4-amino-5-hydroxybenzoic acid (HHAB) to produce DHHB when expressed in yeast cells lacking COQ9, even if utilization of para-aminobenzoic acid (pABA) involving C4-deamination seems not to occur in bacteria, plants and mammals, where only C5 hydroxylation of HHB has been shown.

Target Involvement

Coenzyme Q10 deficiency, primary, 6 (COQ10D6)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Golgi apparatus. Cell projection.

Target Protein Families

UbiH/COQ6 family

Target Tissue Specificity

Widely expressed.

Target Synonyms

CGI-10; Coenzyme Q6 homolog (yeast); Coenzyme Q6 homolog; monooxygenase (S. cerevisiae); Coenzyme Q6 homolog; monooxygenase (yeast); coq6; COQ6_HUMAN; Ubiquinone biosynthesis monooxygenase COQ6

Target Background

The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.