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The protein encoded by COQ6 belongs to the ubiH/COQ6 family. Additionally we are shipping Coenzyme Q6 Homolog, Monooxygenase (S. Cerevisiae) Antibodies (44) and many more products for this protein.
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Data indicate a heterozygous loss-of-function coenzyme Q10 (show EIF2C2 Proteins) (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation in familial schwannomatosis.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
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.
ubiquinone biosynthesis monooxygenase COQ6
, coenzyme Q10 monooxygenase 6
, coenzyme Q6 homolog, monooxygenase