NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
VDR: Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Regulates transcription of hormone sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex. Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis. Defects in VDR are the cause of rickets vitamin D- dependent type 2A (VDDR2A). A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. Belongs to the nuclear hormone receptor family. NR1 subfamily.
Protein type: DNA-binding; Transcription factor; Nuclear receptor
Chromosomal Location of Human Ortholog: 12q13.11
Cellular Component: nucleoplasm; nucleus; receptor complex
Molecular Function: retinoid X receptor binding; protein binding; DNA binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; vitamin D3 receptor activity; transcription factor activity
Biological Process: lactation; transcription initiation from RNA polymerase II promoter; positive regulation of apoptosis involved in mammary gland involution; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; decidualization; signal transduction; intestinal absorption; cellular calcium ion homeostasis; negative regulation of cell proliferation; calcium ion transport; gene expression; steroid hormone mediated signaling; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; skeletal development; positive regulation of keratinocyte differentiation
Disease: Vitamin D-dependent Rickets, Type 2a; Osteoporosis
Research Articles on VD3
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Product Notes
The Porcine VD3 vdr (Catalog #AAA262010) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA262010 ELISA Kit recognizes Porcine VD3. It is sometimes possible for the material contained within the vial of "Vitamin D3 (VD3), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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