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VDR

VDR

Reviewed August 2014

What is the official name of the VDR gene?

The official name of this gene is “vitamin D (1,25- dihydroxyvitamin D3) receptor.”

VDR is the gene's official symbol. The VDR gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the VDR gene?

The VDR gene provides instructions for making a protein called vitamin D receptor (VDR), which allows the body to respond appropriately to vitamin D. This vitamin can be acquired from foods in the diet or made in the body with help from sunlight. 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 process unrelated to bone formation.

VDR 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 of proteins 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, VDR helps control calcium and phosphate absorption and other processes.

Although the mechanism is not completely understood, VDR is also involved in hair growth. Studies suggest that this process does not require calcitriol binding.

Does the VDR gene share characteristics with other genes?

The VDR gene belongs to a family of genes called NR (nuclear hormone receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the VDR gene related to health conditions?

vitamin D-dependent rickets - caused by mutations in the VDR gene

Mutations in the VDR gene cause vitamin D-dependent rickets type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). This disorder of bone development is characterized by low levels of calcium (hypocalcemia) and phosphate (hypophosphatemia) in the blood, which lead to soft, weak bones (rickets) that are prone to fracture. A common feature of this condition is bowed legs.

The VDR gene mutations that cause this condition prevent the VDR protein from functioning properly. Some changes in the VDR gene lead to an abnormally short version of the VDR protein; others result in the production of an abnormal receptor that cannot bind to calcitriol, to RXR, or to DNA. Despite plenty of calcitriol in the body, the altered VDR cannot stimulate gene activity important for mineral absorption. The lack of calcium and phosphate absorption in the intestines slows deposition of these minerals into developing bone (bone mineralization), which leads to soft, weak bones and other features of VDDR2. Hypocalcemia also causes muscle weakness and seizures in some affected individuals. Most VDR gene mutations impair hair growth, leading to alopecia; however, mutations that block VDR's ability to interact with calcitriol do not cause alopecia, indicating that calcitriol is not necessary for the receptor's role in hair development.

Where is the VDR gene located?

Cytogenetic Location: 12q13.11

Molecular Location on chromosome 12: base pairs 47,841,536 to 47,905,030

The VDR gene is located on the long (q) arm of chromosome 12 at position 13.11.

The VDR gene is located on the long (q) arm of chromosome 12 at position 13.11.

More precisely, the VDR gene is located from base pair 47,841,536 to base pair 47,905,030 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about VDR?

You and your healthcare professional may find the following resources about VDR helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the VDR gene or gene products?

  • 1,25-dihydroxyvitamin D3 receptor
  • NR1I1
  • nuclear receptor subfamily 1 group I member 1
  • vitamin D3 receptor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding VDR?

alopecia ; bone formation ; bone mineralization ; calcium ; DNA ; gene ; hereditary ; mineral ; phosphate ; protein ; receptor ; retinoid ; rickets

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: August 2014
Published: October 20, 2014