CYP27B1

A gene on chromosome 12q13.3-q14 that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP27B1 localises to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position, synthesing the active form of vitamin D3 which binds to the vitamin D receptor and regulates calcium metabolism.
Molecular pathology
CYP27B1 mutations are linked to vitamin D-dependent rickets type I.

单词	cyp27b1
释义	CYP27B1 CYP27B1 A gene on chromosome 12q13.3-q14 that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP27B1 localises to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position, synthesing the active form of vitamin D3 which binds to the vitamin D receptor and regulates calcium metabolism. Molecular pathology CYP27B1 mutations are linked to vitamin D-dependent rickets type I.
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