Vitamin D Receptor est un gène codé par le symbole VDR. Il est également connu sous le nom de: Vitamin D3 receptor; VDR; 1,25-dihydroxyvitamin D3 receptor; Nuclear receptor subfamily 1 group I member 1; NR1I1. Vitamin D Receptor a une masse de 48.29kDa, une longueur d'acide aminé de 427, et est impliqué dans Rickets vitamin D-dependent 2A.
Nous proposons 13 des anticorps contre Vitamin D Receptor, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity).
Résumé Entrez
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.
Implication dans la maladie
Rickets vitamin D-dependent 2A: A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.
Similitudes de séquence
Belongs to the nuclear hormone receptor family. NR1 subfamily.
Localisation cellulaire
Nucleus. Cytoplasm.
Localizes mainly to the nucleus (PubMed:28698609, PubMed:12145331). Localization to the nucleus is enhanced by vitamin D3.
