title: [Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy].
abstract: CYP4V2, a relatively new member of human cytochrome P450 (P450) enzymes, is termed an "orphan" P450 because its substrate specificity and physiological roles are unknown. Mutations in the CYP4V2 gene is associated with an autosomal recessive inherited ocular disease named Bietti's crystalline dystrophy (BCD). The strong gene-disease associations provide unique opportunities for elucidating the substrate specificity of this orphan P450s and unraveling the biochemical pathways that may be impacted in patients with CYP4V2 functional deficits.
authors.affiliation: Department of Ophthalmology, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Xu
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Sui
authors.forename: Fang-tian
authors.initials: FT
authors.lastname: Dong
mesh_terms: D003001:Cloning, Molecular; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072470:Cytochrome P450 Family 4; D006801:Humans; D012164:Retinal Diseases / Q000235:genetics*
chemical_list: D003577:Cytochrome P-450 Enzyme System; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4