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.
References in periodicals archive ?
uk/news/health-16086004) Oxford University researchers identified a mutated gene CYP27B1 that played a major role in lowering vitamin D levels in MS patients.
Equivalent anticancer activities of dietary vitamin D and calcitriol in an animal model of breast cancer: Importance of mammary CYP27B1 for treatment and prevention.
1,3,4) Unlike the intracrine mechanism, the endocrine mechanism of vitamin D activation is in the proximal convoluted tubules of the kidneys where CYP27B1 is directly regulated by calcium and indirectly by PTH, linking vitamin D to a role in calcium homeostasis.
In addition to stimulating phagocytosis, the heterodimer induces the expression of CYP27B1 and vitamin D receptor (VDR).
Factors released from injured cells promote the formation of CYP27B1, leading to a local increase in 1,25(OH)D.
The prohormone 25(OH)D undergoes further hydroxylation by CYP27B1 and CYP24A1 in the kidney to form different dihydroxyvitamin D metabolites, 1[alpha],25[(OH).
High dietary vitamin D prevents hypocalcemia and osteomalacia in CYP27B1 knockout mice.
The results showed that a variant in the CYP27B1 gene was associated with congestive heart failure in patients with hypertension.
CYP: CYP1A1, CYP1A2, CYP2B7, CYP2C9, CYP2C18, CYP2C19, CYP2D6, CYP2E1, CYP2J2, CYP4A11, CYP4F2, CYP7A1, CYP7B1, CYP8B1, CYP11A1, CYP17A1, CYP19A1, CYP24A1, CYP26A1, CYP26B1, CYP27B1, CYP39A1.
Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.
How 1,25D3 could participate in the injury response was explained by findings that the levels of CYP27B1, which converts 25OH vitamin D3 (25D3) to active 1,25D3, were increased in wounds and induced in keratinocytes in response to TGF-beta1.
Human mammary epithelial cells express CYP27B1 and are growth inhibited by 25-hydroxyvitamin D-3, the major circulating form of vitamin D-3.