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COQ2 encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. Zusätzlich bieten wir Ihnen COQ2 Kits (4) und COQ2 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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Dog (Canine) Polyclonal COQ2 Primary Antibody für WB - ABIN2782857
Diomedi-Camassei, Di Giandomenico, Santorelli, Caridi, Piemonte, Montini, Ghiggeri, Murer, Barisoni, Pastore, Muda, Valente, Bertini, Emma: COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. in Journal of the American Society of Nephrology : JASN 2007
Show all 2 Pubmed References
flies defective in CoQ biosynthetic gene coq2 were more susceptible to bacterial and fungal infections, while were more resistant to viruses
sbo is an essential gene for Drosophila development, mutation of which leads to an extension of lifespan most likely by altering endogenous CoQ biosynthesis.
Recessive causative mutations in COQ2 are very rare in Italian multiple system atrophy patients.
We defined the structure of COQ2 with relevant implications for mutation screening in patients and demonstrated that, contrary to other COQ gene defects such as ADCK3 (zeige ADCK3 Antikörper), there is a correlation between COQ2 genotype and patient's phenotype.
Findings provide evidence that the previously reported association of COQ2 V393A polymorphism with increased risk of multiple system atrophy in Japanese also applies to Han Chinese, as well as more broadly to other East Asian populations
The V393A variant in the COQ2 gene increases risk of PD.
Results indicated that COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to multiple system atrophy
This case-control study shows no evidence for an association between ALS and the V393A variant of COQ2 in Han Chinese.
This study demonstrated that COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese.
Multiple system atrophy due to recessive COQ2 mutations (including exon dosage) was not observed in our study
The recessive COQ2 mutations recently were nominated to be the genetic cause in a subset of familial and sporadic MSA (zeige TPO Antikörper) cases.
A novel homozygous mutation in COQ2 (c.905C>T,p.Ala302Val) found in dizygotic twins is linked to fatal infantile multisystem disease.
This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement.
, coenzyme Q biosynthesis protein 2
, small boy
, 4-hydroxybenzoate polyprenyltransferase, mitochondrial
, coenzyme Q2 homolog, prenyltransferase
, para-hydroxybenzoate-polyprenyltransferase, mitochondrial
, para-hydroxybenzoate--polyprenyltransferase, mitochondrial