Genetic disorders of Vitamin D biosynthesis and degradation

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• 作者：Walter L. Miller ^{wlmlab@ucsf.edu}
• 关键词：CYP ; cytochrome P450 ; ER ; endoplasmic reticulum ; FAD ; flavin adenine dinucleotide ; FMN ; flavin mononucleotide ; POR ; P450 oxidoreductase ; VDR ; vitamin D receptor
• 刊名：The Journal of Steroid Biochemistry and Molecular Biology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：part_PA
• 页码：101-108
• 全文大小：704 K
• 卷排序：165

文摘

Vitamin D is an inactive seco-steroid generated by opening the B-ring of 7-dehydrocholesterol in response to ultraviolet light. Activation of vitamin D to 1,25(OH)2D requires 25-hydroxylation and 1α-hydroxylation; inactivation is mainly via 24-hydroxylation. The three hydroxylations of vitamin D are catalyzed by cytochrome P450 enzymes: microsomal CYP2R1 and mitochondrial CYP27B1 and CYP24A1. Genetic disorders of CYP2R1 and CYP27B1 cause hypocalcemia and rickets; disorders of CYP24A1 cause neonatal hypercalcemia. Novel derivatives of vitamin D may be generated by cleavage of the cholesterol side chain via CYP11A1.