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CYP4V2 encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. Additionally we are shipping Cytochrome P450, Family 4, Subfamily V, Polypeptide 2 Proteins (2) and many more products for this protein.
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This is the first report of a homozygous R400C mutation in CYP4V2 with protein modelling showing high likelihood of enzyme dysfunction. The comprehensive long-term clinical follow-up provides insight into disease progression and highlights possible anti-inflammatory modulation of disease severity.
Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS (show EYS Antibodies)-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS (show EYS Antibodies).
In summary, we confirmed that the choroideremia-like (show CHML Antibodies) fundus appearance of our patient was caused by the novel homozygous CYP4V2 variant.
Expression levels of both CYP4V2 mRNA and protein were significantly reduced after treatment with peroxisome proliferator-activated receptor gamma (PPARgamma (show PPARG Antibodies)) antagonist GW9662
We found that the subfoveal choroidal thickness and the outer choroidal vascular area were smaller in Bietti Crystalline Dystrophy patients with CYP4V2 mutations than in age-, sex-, AL-, and logMAR VA-matched RP patients with EYS (show EYS Antibodies) mutations or age-, sex-, and AL-matched healthy controls.
Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future.
The results of this study demonstrate that causative variants identified in the CTNNA1 (show CTNNA1 Antibodies) and CYP4V2 genes are also associated with Leber Congenital Amaurosis.
Genetic analysis of the CYP4V2 gene revealed a c.802-8_810delinsGC homozygote mutation.
In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO (show KCNMA1 Antibodies).
Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti's crystalline dystrophy.
This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy.
cytochrome P450 4V2
, cytochrome P450, family 4, subfamily V, polypeptide 2