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 ?
Alterations in vitamin D signaling and metabolic pathways in breast cancer progression: A study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions.
To date, over 100 patients with 78 mutations have been identified in the CYP27B1 gene in patients from multiple ethnic groups.
Vitamin D circulates in vivo in the form of 25-hydroxyvitamin D (25(OH)D), and 1[alpha],25-dihydroxy vitamin D3 (125D) is the active form of vitamin D, which plays its biological roles through specifically combining with vitamin D receptors (VDRs) in a variety of tissues (12); vitamin D1-[alpha] hydroxylase (CYP27B1) is a key enzyme that converts the circulating form of vitamin D (25(OH)D) into the active form 125D.
When levels of calcium are low, parathyroid hormone, a potent inducer of renal cytochrome P450 27B1 (CYP27B1), is released from the parathyroid gland to increase production of 1[alpha],25[(OH).sub.2][D.sub.3] in the kidneys (Dusso et al., 2005; Brenza et al., 1998).
The upper cervical spinal cord area was (55) associated with disability, linear relationship between 9 loci (BATF, CYP27B1, IL12B, NFKB1, IL7, PLEK, EVI5, TAGAP, nrs669607), inverse relationship with 3 loci (TYK2, RGS1, CLEC16A).
Fortunately, Zhuang et al .[19],[20] identified that the variants in interleukin 7 ( IL7 ) and CYP27B1 were associated with MS.
En el higado la VD se hidroxila para formar 25-(OH)D (calcidiol), que se metaboliza a su metabolito activo 1,25(OH)2D (calcitriol), por la enzima CYP27B1, preferentemente en el rinon.
Such interventions included feeding of vitamin D-deficient diet or low phosphate diet, ablation of the vitamin D receptor (Vdr) gene, the Cyp27b1 gene, and the sodium-dependent phosphate transporter type IIa (Npt2a) gene (Table 1).
The CYP27B1 gene showed overexpression in OSCC, while CYP27A1, CYP2E1, CYP2R1, CYP2J2, CYP2U1, CYP4F12, CYP4X1, CYP4B1, PTGIS, ALOX12B, and MAOB genes showed reduced expression (Table 1 and Figure 2).
The realization of the biological effects of vitamin D in cells is closely related to the functioning of the vitamin D-endo/para/autocrine system, which includes (1) photoconversion of 7-dehydrocholesterol in the skin with the formation of cholecalciferol; (2) synthesis of 25OHD (calcidiol) in the liver by means of two key vitamin D 25-hydroxylases (cytochromes P450), CYP2R1 and CYP27A1; (3) conversion of 25-hydroxyvitamin D (25OHD) in the kidneys or extrarenal tissues to hormonally active form, 1[alpha],25[(OH).sub.2]D, by 25OH-1[alpha]-hydroxylase (CYP27B1); (4) calcitriol transport to target organs by vitamin D binding protein (VDBP); and (5) binding of 1[alpha],25[(OH).sub.2]D to vitamin D receptors (VDR) and regulation of gene expression [7].
Recently it was found that rs703842 and rs10876994 in CYP27B1 gene that encodes a vitamin D metabolising protein are related to neurological demyelinating diseases in a Chinese population.
Primary antibodies for klotho (1 : 2000; LSBio), [beta]-actin (1 : 5000; Sigma), GAPDH (1 : 7500; Abcam), VDR (1 : 750; Novus Biologicals), and 1-[alpha]-hydroxylase (CYP27B1 (1 : 750; Abcam)) were used; secondary antibodies were HRP-linked goat anti-mouse or goat anti-rabbit (1 : 5000, Jackson).