25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome p450 27B1; calcidiol 1-monooxygenase; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; VD3 1A hydroxylase; P450C1 alpha; P450VD1-alpha (CYP27B1, CYP1ALPHA, CYP27B)
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Function
- catalyzes conversion of calcidiol (25-hydroxyvitamin D3) to calcitriol (1-alpha,25-dihydroxyvitamin D3)
- role in normal bone growth, Ca+2 metabolism, & tissue differentiation
- hormone biosynthesis; cholecalciferol biosynthesis
calcidiol + NADPH + O2 <--> calcitriol + NADP+ + H2O
Cofactor: heme group (putative)
Structure
belongs to the cytochrome P450 family
Compartment
Expression
kidney, macrophages
Pathology
- defects in CYP27B1 are a cause of vitamin D-dependent rickets type 1
- CYP27B1 is present in macrophages & may be stimulated to produce calcitriol in granulomatous disease, resulting in hypercalcemia[4]
- deficiency may occur with severe renal failure
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O15528.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP27B1
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/cyp27b1/
- ↑ 4.0 4.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 17. American College of Physicians, Philadelphia 2012, 2015