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The protein encoded by COQ6 belongs to the ubiH/COQ6 family. De plus, nous expédions Coenzyme Q6 Homolog, Monooxygenase (S. Cerevisiae) Anticorps (59) et et beaucoup plus de produits pour cette protéine.
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Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both Steroid-Resistant Focal Segmental Glomerulosclerosis and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage.
Data indicate a heterozygous loss-of-function coenzyme Q10 (Montrer EIF2C2 Protéines) (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