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CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000785 Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol CYP27B1
Entrez Gene ID 1594
Full Name cytochrome P450, family 27, subfamily B, polypeptide 1
Synonyms CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q13.1-q13.3

Summary 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].
Disorder

MIM: 609506

Vitamin D-dependent rickets, type I, 264700 (3)

mRNA Protein Product Sequence Price Select
NM_000785, 74099700 NP_000776, 4503213 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ORF Sequence $550.00
KEGG
hsa05152Tuberculosis
hsa_M00103Cholecalciferol biosynthesis
hsa00100Steroid biosynthesis
WikiPathways
WP43cytochrome P450
WP702metapathway biotransformation
WP1531Vitamin D synthesis
WP299Nuclear receptors in lipid metabolism and toxicity
BIOCYC
HUMAN_PWY-60761,25-dihydroxyvitamin D3 biosynthesis
Reactome
REACT_13523Vitamin D (calciferol) metabolism
REACT_13433Biological oxidations
REACT_13567Cytochrome P450 - arranged by substrate type
REACT_11057Metabolism of steroid hormones and vitamins A and D
REACT_111217Metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_13705Phase 1 - Functionalization of compounds
REACT_13450Vitamins
Homo sapiens (human)CYP27B1NP_000776.1
Pan troglodytes (chimpanzee)CYP27B1XP_509175.2
Macaca mulatta (Rhesus monkey)CYP27B1XP_001116450.1
Canis lupus familiaris (dog)CYP27B1XP_538254.3
Bos taurus (cattle)CYP27B1NP_001179213.1
Mus musculus (house mouse)Cyp27b1NP_034139.2
Danio rerio (zebrafish)LOC793309XP_003199448.1
GeneCards CYP27B1
UniProt Q548T3, O15528
MIM 609506
Ensembl ENSG00000111012
HGNC 2606
HPRD 02031

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
1alpha(OH)ase
VD3 1A hydroxylase
cytochrome p450 27B1
cytochrome P450C1 alpha
cytochrome P450VD1-alpha
calcidiol 1-monooxygenase
25-OHD-1 alpha-hydroxylase
25 hydroxyvitamin D3-1-alpha hydroxylase
cytochrome P450 subfamily XXVIIB polypeptide 1
NP_000776.1

Interactant



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