Name

CYP27B1 Gene

cytochrome P450, family 27, subfamily B, polypeptide 1

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]

cyp27b1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term cyp27b1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

CYP27B1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CYP27B1 from the Pathway Commons Protein-Protein Interactions dataset.

Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) pathway from the Reactome Pathways dataset.