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VDR gene
URL of this page: https://medlineplus.gov/genetics/gene/vdr/

VDR gene

vitamin D receptor

Normal Function

The VDR gene provides instructions for making a receptor protein that helps the body use vitamin D. This vitamin can be obtained from food or made in the skin after exposure to the sun or to light from certain other sources, such as tanning beds. Vitamin D helps maintain the proper balance of calcium and phosphate. These minerals strengthen bones and teeth and allow them to develop normally. One of vitamin D's major roles is to help regulate the absorption of calcium and phosphate from the intestines into the bloodstream.

The VDR protein attaches to the active form of vitamin D, which is called calcitriol. This interaction allows the VDR protein to partner with another protein called retinoid X receptor (RXR). The resulting complex then binds to particular regions of DNA and regulates the activity of genes known as vitamin D-responsive genes. These genes direct the production of the proteins that play important roles in regulating calcium and phosphate levels in the body. By regulating the activity of these genes, the complex helps control how much calcium and phosphate are absorbed from food.

The VDR protein also appears to be involved in hair growth.

Health Conditions Related to Genetic Changes

Vitamin D-dependent rickets

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the VDR gene cause vitamin D-dependent rickets type 2A (VDDR2A). This disorder is characterized by soft, weak bones (rickets) that are prone to fracture and more likely to be misshapen. A common feature of this condition is abnormally curved (bowed) legs, but affected individuals may also have enlargement of the skull, the wrists, and the ends of the ribs.

Pathogenic variants in the VDR gene can cause cells to make a version of the protein that does not properly bind to calcitriol. This impairs the activation of the genes that are important for calcium and phosphate absorption. As a result, intestinal absorption of calcium and phosphate is impaired, which decreases the levels of calcium and phosphate in the blood. This leads to the weakened bones that are seen in affected individuals.

Although the mechanism is not completely understood, the pathogenic variants that lead to more severe problems in the function of the VDR protein can cause hair loss (alopecia) in some people with VDDR2A.

More About This Health Condition

Other Names for This Gene

  • 1,25-dihydroxyvitamin D3 receptor
  • NR1I1
  • PPP1R163
  • protein phosphatase 1, regulatory subunit 163

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Feldman D, J Malloy P. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets. Bonekey Rep. 2014 Mar 5;3:510. doi: 10.1038/bonekey.2014.5. eCollection 2014. Citation on PubMed or Free article on PubMed Central
  • Gentile C, Chiarelli F. Rickets in Children: An Update. Biomedicines. 2021 Jun 27;9(7):738. doi: 10.3390/biomedicines9070738. Citation on PubMed
  • Levine MA. Diagnosis and Management of Vitamin D Dependent Rickets. Front Pediatr. 2020 Jun 12;8:315. doi: 10.3389/fped.2020.00315. eCollection 2020. Citation on PubMed
  • Malloy PJ, Feldman D. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am. 2010 Jun;39(2):333-46, table of contents. doi: 10.1016/j.ecl.2010.02.004. Citation on PubMed or Free article on PubMed Central
  • Malloy PJ, Feldman D. The role of vitamin D receptor mutations in the development of alopecia. Mol Cell Endocrinol. 2011 Dec 5;347(1-2):90-6. doi: 10.1016/j.mce.2011.05.045. Epub 2011 Jun 13. Citation on PubMed or Free article on PubMed Central
  • Malloy PJ, Tasic V, Taha D, Tutunculer F, Ying GS, Yin LK, Wang J, Feldman D. Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. Mol Genet Metab. 2014 Jan;111(1):33-40. doi: 10.1016/j.ymgme.2013.10.014. Epub 2013 Nov 4. Citation on PubMed or Free article on PubMed Central
  • Ryan JW, Anderson PH, Turner AG, Morris HA. Vitamin D activities and metabolic bone disease. Clin Chim Acta. 2013 Oct 21;425:148-52. doi: 10.1016/j.cca.2013.07.024. Epub 2013 Jul 30. Citation on PubMed
  • Tamura M, Ishizawa M, Isojima T, Ozen S, Oka A, Makishima M, Kitanaka S. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia. Sci Rep. 2017 Jul 11;7(1):5102. doi: 10.1038/s41598-017-05081-x. Citation on PubMed or Free article on PubMed Central
  • Tiosano D, Hadad S, Chen Z, Nemirovsky A, Gepstein V, Militianu D, Weisman Y, Abrams SA. Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. J Clin Endocrinol Metab. 2011 Dec;96(12):3701-9. doi: 10.1210/jc.2011-1432. Epub 2011 Sep 14. Citation on PubMed

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