Meyahealth
HomeGeneticsGeneVDR gene
Back to Gene
VDR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

VDR gene

The VDR gene provides instructions for making a receptor protein that is essential for the body to utilize vitamin D and maintain healthy bone development.

Overview

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 synthesized in the skin after exposure to sunlight or other light sources, such as tanning beds. Vitamin D is crucial for maintaining the proper balance of calcium and phosphate, which are minerals that strengthen bones and teeth. A primary role of vitamin D is to regulate the absorption of these minerals from the intestines into the bloodstream.

The VDR protein attaches to the active form of vitamin D, known as calcitriol. This interaction allows the VDR protein to partner with another protein called retinoid X receptor (RXR). The resulting complex binds to specific regions of DNA to regulate the activity of vitamin D-responsive genes. These genes direct the production of proteins that control calcium and phosphate levels. Additionally, the VDR protein appears to be involved in hair growth.

Health Conditions Related to Genetic Changes

Vitamin D-dependent rickets

Pathogenic variants in the VDR gene cause vitamin D-dependent rickets type 2A (VDDR2A). This disorder is characterized by soft, weak bones that are prone to fracture and misshapenness. Common features include:

  • Abnormally curved (bowed) legs
  • Enlargement of the skull
  • Enlargement of the wrists
  • Enlargement of the ends of the ribs

These variants cause cells to produce a version of the protein that fails to bind properly to calcitriol. This impairs the activation of genes responsible for calcium and phosphate absorption, leading to decreased levels of these minerals in the blood and subsequent bone weakening. In some cases, severe dysfunction of the VDR protein can also lead to hair loss (alopecia).

Other Names for This Gene

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

Frequently Asked Questions

VDDR2A typically presents in infancy with features like soft, weak bones prone to fractures, abnormally curved or bowed legs, and enlargement of the skull, wrists, and ends of the ribs. Poor growth, muscle weakness, and dental problems can also occur.
Treatment for VDDR2A often involves high doses of calcitriol (the active form of vitamin D) and calcium supplements to bypass the defective receptor and promote mineral absorption. Regular monitoring of calcium and phosphate levels is essential. In some cases, very high doses of calcitriol may not be effective, and other approaches might be explored.
Diagnosis involves clinical evaluation, X-rays to assess bone deformities, and blood tests. Blood tests typically show low calcium and phosphate levels, elevated parathyroid hormone, and high levels of 1,25-dihydroxyvitamin D (calcitriol) because the body tries to compensate for the receptor's inability to respond to it. Genetic testing of the VDR gene confirms the diagnosis.
Yes, VDDR2A is an inherited condition caused by pathogenic variants in the VDR gene. It is typically inherited in an autosomal
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ