VDR : vitamin D receptor
Description
The VDR (vitamin D receptor) is a protein-coding gene located on chromosome 12.
The VDR gene provides instructions for making a protein called vitamin D receptor (VDR), which allows the body to respond to vitamin D. Vitamin D is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several processes unrelated to bone and tooth formation. The VDR protein attaches (binds) to the active form of vitamin D, known as calcitriol. This interaction allows VDR to partner with another protein called retinoid X receptor (RXR). The resulting complex then binds to particular regions of DNA, known as vitamin D response elements, and regulates the activity of vitamin D-responsive genes. By turning these genes on or off, the complex helps control calcium and phosphate absorption and other processes. Although the mechanism is not completely understood, the VDR protein is also involved in hair growth. Studies suggest that this process does not require calcitriol binding.
The vitamin D receptor (VDR) is a nuclear receptor for calcitriol, the active form of vitamin D3. It mediates the actions of vitamin D3 on cells by entering the nucleus upon vitamin D3 binding, forming heterodimers with the retinoid X receptor (RXR), and activating the transcription of vitamin D3-responsive target genes. VDR plays a central role in calcium homeostasis and also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites.
VDR is also known as NR1I1, PPP1R163.
Associated Diseases
- Rickets, vitamin D-resistant, type IIA
- Hypocalcemic vitamin D-resistant rickets
- Vitamin D-dependent rickets
- Intervertebral disc disease
- Leprosy
- Alopecia areata
- Kidney stones
