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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.
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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-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS.
In summary, we confirmed that the choroideremia-like 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 Proteins)) 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 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 Proteins) 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 Proteins).
Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti's crystalline dystrophy.
Data conclude that within the mouse F11 (show F11 Proteins), Klkb1 (show KLKB1 Proteins), Cyp4v3 gene cluster, F11 (show F11 Proteins) and Cyp4v3 frequently display striking parallel transcriptional responses suggesting the presence of shared regulatory elements.
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
, cytochrome P450 4V3
, cytochrome P450, 4v3
, cytochrome P450-like protein