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Gene : CYP27B1 Homo sapiens

Name  ? cytochrome P450 family 27 subfamily B member 1 Cytological Location  12q14.1
Brief Description  cytochrome P450 family 27 subfamily B member 1
Description  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]
  • synonyms:
  • PDDR,
  • HGNC:2606,
  • VDDRI,
  • VDD1,
  • 25-Hydroxyvitamin D3 1alpha-hydroxylase,
  • cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1,
  • OTTHUMG00000170457,
  • VDDR I,
  • uc001spz.2,
  • Calcidiol 1-monooxygenase,
  • P450c1,
  • VDDR,
  • VDR,
  • CYP1,
  • AB006987,
  • P450c1,
  • PDDR,
  • 1alpha(OH)ase,
  • cytochrome P450, family 27, subfamily B, polypeptide 1,
  • VDD1,
  • CYP27B,
  • CYP27B1,
  • CP2B,
  • CYP1,
  • NM_000785,
  • CYP1alpha
  • identifiers:
  • 1594,
  • ENSG00000111012,
  • CYP27B1

Genome feature

Region: gene ? Length: 4745  
Location: 12:57762334-57767078 reverse strand Cyto location: 12q14.1


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Disease

1 Diseases

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3753 SN Ps

4 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results