3dl9
Crystal structure of CYP2R1 in complex with 1-alpha-hydroxy-vitamin D2Crystal structure of CYP2R1 in complex with 1-alpha-hydroxy-vitamin D2
Structural highlights
DiseaseCP2R1_HUMAN Defects in CYP2R1 are the cause of rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activityand low levels of 25-hydroxyvitamin D.[1] FunctionCP2R1_HUMAN Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).[2] [3] [4] Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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