Contents

Search

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)

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: mitochondrial membrane 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

General

cytochrome P450 mitochondrial protein steroid hydroxylase

Properties

SIZE: entity length = 508 aa MW = 57 kD COMPARTMENT: mitochondria MOTIF: Iron [Fe]-binding site SITE: 455-455

Database Correlations

OMIM correlations MORBIDMAP 609506 UniProt O15528 Pfam PF00067 Kegg hsa:1594 ENZYME 1.14.13.13

References

  1. UniProt :accession O15528
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP27B1
  3. NIEHS-SNPs http://egp.gs.washington.edu/data/cyp27b1/
  4. Medical Knowledge Self Assessment Program (MKSAP) 16, 17. American College of Physicians, Philadelphia 2012, 2015