VDR gene

General Information

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IDGENE-VDRNutriKB
NameVDR geneMedlinePlus
Aliasvitamin D receptorMedlinePlus
Alias1,25-dihydroxyvitamin D3 receptorMedlinePlus
AliasNR1I1MedlinePlus
AliasPPP1R163MedlinePlus
Aliasprotein phosphatase 1, regulatory subunit 163MedlinePlus
DefinitionThe 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.MedlinePlus

Taxonomy

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is_AGenetic conditionMedlinePlus

Associated Diseases

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health_condition_related_to_genetic_changesVitamin D-dependent ricketsPathogenic variants in the VDR gene cause vitamin D-dependent rickets type 2A (VDDR2A).MedlinePlus
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MedlinePlushttps://medlineplus.gov/genetics/gene/vdrMedlinePlus