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 ?
19],[20] identified that the variants in interleukin 7 ( IL7 ) and CYP27B1 were associated with MS.
The aim of this study was to measure the concentrations of 25-hydroxyvitamin D (25(OH) D), IL-17, IL-23 and TGF-[beta], and the expression of CYP27B1 and VDR, in the decidua of women with RSA in the first trimester of pregnancy.
Moreover, increased messenger RNA (mRNA) expression of CYP27B1, the enzyme involved in converting 25(OH)D to its active metabolite, was observed in mice treated with BPA (Otsuka et al.
4 Previously, vitamin D concentrations in brain were considered to be dependent on its plasma levels until the ideas of expression of CYP27B1 and vitamin D receptors (VDR) in different tissues were introduced.
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Noursadeghi, "Regulation of CYP27B1 and CYP24A1 hydroxylases limits cell-autonomous activation of vitamin D in dendritic cells," European Journal of Immunology, vol.
VDR and CYP27B1 are expressed in C2C12 cells and regenerating skeletal muscle: potential role in suppression of myoblast proliferation.
Equivalent anticancer activities of dietary vitamin D and calcitriol in an animal model of breast cancer: importance of mammary CYP27B1 for treatment and prevention.
Contrario a la PTH, cuyo objetivo principal es estimular al gen CYP27B1.
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.
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.
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).