GeneID: 57



Names

Common Name: VDR Type: Gene
Chromosome: 12 (NC_000012.12) Locus: NG_008731.1 (VDR)
HUGO Symbol: VDR Full Name: vitamin D (1,25- dihydroxyvitamin D3) receptor
Exons: 10 Introns: 9

Description:
VDR is a member of the nuclear hormone receptor family, acting as a ligand-inducible transcription factor. Binding of the vitamin D3 ligand to the VDR mediates partnering of the latter with the retinoid X receptor (RXR) and formation of the VDR-RXR heterodimer, which in turn binds to vitamin D response elements (VDREs) located in the promoter region of the target genes, thereby regulating their transcription. Vitamin D can be obtained from food in the diet. Cholesterol is converted to vitamin D3 through the action of sunshine on the skin. Vitamin D3 is a major regulator of calcium metabolism and thus of bone formation, and plays an important role in cell growth, differentiation and immune functions. Mutations in this gene are associated with vitamin D-resistant rickets. Polymorphisms in this gene associated with bone mineral density (osteoporosis) in β-thalassemia patients. Alternative splicing results in multiple transcript variants encoding different proteins.

Synonyms: NR1I1 , PPP1R163

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Cheskis B, Freedman LP, Ligand modulates the conversion of DNA-bound vitamin D3 receptor (VDR) homodimers into VDR-retinoid X receptor heterodimers., Mol. Cell. Biol. , 14(5), 3329-38, 1994 PubMed
  2. Rochel N, Wurtz JM, Mitschler A, Klaholz B, Moras D, The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand., Mol. Cell , 5(1), 173-9, 2000 PubMed
  3. Carlberg C, Campbell MJ, Vitamin D receptor signaling mechanisms: integrated actions of a well-defined transcription factor., Steroids , 78(2), 127-36, 2013 PubMed
Created on 2016-04-25 18:32:04, Last reviewed on 2016-04-25 18:46:55 (Show full history)


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