Vitamin D Receptor human

VDR (vitamin D receptor) or vitamin D3 receptor, is a member of the steroid and thyroid hormone receptors superfamily of trans-acting transcriptional regulatory factors. It is an intracellular polypeptide of 50-60kDa. This receptor is composed of a highly conserved cysteine, lysine, and arginine-rich DNA-binding domain, and a hydrophobic ligand-binding domain in its C-terminal. It shares size and sequence similarity to thyroid hormone receptor. VDR gene is localized to human chromosome 12q12–q14.

VDR (vitamin D receptor) binds with its ligand 1a,25-dihydroxyvitamin D3 [1,25(OH)2D3] or vitamin D3, and act upon the target cell nuclei to induce various biological effects. Vitamin D3 is also thought to have immunomodulatory effects, and the rs10735810 VDR gene polymorphism is linked with pertussis. This variant might thus, affect the immune response and clinical outcome of Bordetella pertussis infection.

The vitamin D endocrine system is critical for the proper development and maintenance of mineral ion homeostasis and skeletal integrity. Beyond these classical roles, recent evidence suggests that the bioactive metabolite of vitamin D, 1,25-dihydroxyvitamin D3, functions in diverse physiological processes, such as hair follicle cycling, blood pressure regulation, and mammary gland development. The biological effects of 1,25-(OH)2D3 are mediated through the vitamin D receptor (VDR), a member of the nuclear receptor superfamily of ligand-activated transcription factors. The cellular effects of VDR signaling include growth arrest, differentiation and/or induction of apoptosis. VDR heterodimerizes with RXR and the liganded VDR-RXR heterodimer binds with high affinity to vitamin D response elements (VDREs) in the promoters of target genes. In addition, several nuclear receptor coactivators (SRC-1, DRIP) have been shown to interact with VDR and potentiate its transcriptional activity. In addition to treating disorders of mineral metabolism and diseases of the skeleton, such as rickets, osteoporosis, and renal osteodystrophy, VDR and 1,25-(OH)2D3 have significant therapeutic potential for pathologies such as cancer, autoimmune syndromes, and psoriasis.

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