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CYP27B1 cytochrome P450 family 27 subfamily B member 1

Gene ID: 1594, updated on 14-Oct-2018
Also known as: VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha

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]

Associated conditions

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DescriptionTests
Vitamin D-dependent rickets, type 1
MedGen: C0268689OMIM: 264700GeneReviews: Not available
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Genomic context

Location:
12q14.1
Sequence:
Chromosome: 12; NC_000012.12 (57762334..57767193, complement)
Total number of exons:
9

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