VDR Recombinant Monoclonal Antibody

Uniprot Id

P11473

Target Species

Human

Target Name

VDR

Target Full Name

Vitamin D3 receptor

Target Function

Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Plays a central role in calcium homeostasis.

Target Involvement

Rickets vitamin D-dependent 2A (VDDR2A)

Target Subcellular Location

Nucleus. Cytoplasm.

Target Protein Families

Nuclear hormone receptor family, NR1 subfamily

Target Synonyms

1 25 dihydroxyvitamin D3 receptor; 1; 1,25 dihydroxyvitamin D3 receptor; 1,25-@dihydroxyvitamin D3 receptor; 25-dihydroxyvitamin D3 receptor; Member 1; NR1I1; Nuclear receptor subfamily 1 group I member 1; PPP1R163; Protein phosphatase 1, regulatory subunit 163; VDR; VDR_HUMAN; Vitamin D (1,25- dihydroxyvitamin D3) receptor; Vitamin D hormone receptor; Vitamin D nuclear receptor variant 1; Vitamin D receptor; Vitamin D3 receptor

Target Background

This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon.