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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 Antibodies (36) and Cytochrome P450, Family 4, Subfamily V, Polypeptide 2 Kits (7) and many more products for this protein.
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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.
cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) c.219T>A (p.F73L) mutation may be a recurrent mutation in Chinese patients with Bietti crystalline dystrophy (BCD).
The entire coding region and adjacent intronic regions of the CYP4V2 gene were sequenced. Five mutations were identified in the 29-year-old male with Bietti's crystalline dystrophy.
Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD.
Two mutations in CYP4V2 were found in three Lebanese families with Bietti crystalline dystrophy: p.I111T (c.332T>C) in exon 3 in two families and the novel p.V458M (c.1372G>A) mutation in exon 9 in one family.
Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene were identified as causative mutations for retinitis pigmentosa
Four novel benign variations in the CYP4V2 gene (three in exons and one in an intron) were observed in the patient cohort with Bietti crystalline dystrophy associated with choroidal neovascularization.
these results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with Bietti crystalline corneoretinal dystrophy.
REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis (show LBR Proteins)
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