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Keyword:'Cholecalciferol (Vitamin D3)'
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Cholecalciferol (Vitamin D3)

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VDR
vitamin D (1,25- dihydroxyvitamin D3) receptor
Synonyms:
NR1I1
Species:
Human VDR (7421), Mouse Vdr (22337), Rat Vdr (24873), chicken VDR (395988), dog VDR (486588), Horse VDR (100034072), domestic cat VDR (100316614), cow VDR (533656), sheep VDR (101107273), sheep VDR (100294603), naked mole-rat Vdr (101710294), domestic guinea pig Vdr (100734655)
Summary:
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011
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