Protein Name cytochrome P450 family 27 subfamily B member 1
Organism Homo sapiens
Gene ID 1594
Gene Symbol

CYP27B1

UniProt O15528 (CP27B_HUMAN)
Relationships Total Number of functionally related compound(s) : 185
Total Number of Articles : 496
Description

cytochrome P450 family 27 subfamily B member 1

Gene Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]

synonyms
  • 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
  • 1alpha(OH)ase
  • 25 hydroxyvitamin D3-1-alpha hydroxylase
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Properties