CYP27B1

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]

Description

Cytochrome P450 family 27 subfamily B member 1

Tissue specificity

Tissue enhanced (kidney, thyroid gland)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins

Chromosome

12 (57762334 - 57768986)

Ensembl ID

ENSG00000111012  (ver. 103.38)

Orthologs

Mouse Cyp27b1: ENSMUSG00000006724

UniProt

O15528

neXtProt

NX_O15528

Human splice variants
Mouse splice variants

Protein structure