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- W2033547244 abstract "Vitamin D is deeply involved in a wide variety of biological events such as calcium homeostasis, bone formation and cellular differentiation. An active form of vitamin D, 1alpha,25(OH)2D3, serves as a vitamin D receptor (VDR)-specific ligand to activate the expression of a particular set of target genes. 1Alpha,25(OH)2D3, is biosynthesized from cholesterol, and at the final biosynthesis step, 25-hydroxyvitamin D3 1alpha-hydroxylase [1alpha(OH)ase] in kidney conducts 1alpha-hydroxylation of 25(OH)2D3. This enzymatic activity is under multihormonal regulation and critical for the biosynthesis. Molecular cloning of 1alpha(OH)ase from several species has revealed that this enzyme belongs to a member of the cytochrome P450 enzyme superfamily, with highest homologies to the P450 hydroxylases for vitamin D derivatives. The renal gene expression is strictly regulated at the transcriptional level through its gene promoter by PTH and calcitonine (positive) and 1alpha,25(OH)2D3 (negative). Most importantly in clinical aspects, genetic mutations in this gene to abolish the enzymatic activity are now shown to cause the one of three kinds of hereditary rickets, vitamin D-dependent rickets type I." @default.
- W2033547244 created "2016-06-24" @default.
- W2033547244 creator A5003797388 @default.
- W2033547244 date "1999-10-01" @default.
- W2033547244 modified "2023-10-15" @default.
- W2033547244 title "Genetic mutation in the human 25-hydroxyvitamin D3 1α-hydroxylase gene causes vitamin D-dependent rickets type I" @default.
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- W2033547244 doi "https://doi.org/10.1016/s0303-7207(99)00128-8" @default.
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