C52251Level 6
VDR wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human VDR wild-type allele is located in the vicinity of 12q13.11 and is approximately 63 kb in length. This allele, which encodes vitamin D3 receptor protein, plays a role in the regulation of mineral metabolism and a variety of other metabolic pathways that govern the immune response and cellular growth. Mutations in the gene are associated with type II vitamin D-resistant rickets.
**Synonyms:** - NR1I1 - PPP1R163 - Protein Phosphatase 1, Regulatory Subunit 163 Gene - Vitamin D (1,25- Dihydroxyvitamin D3) Receptor Gene - Vitamin D Receptor wt Allele
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Cross-system equivalences0
No cross-system equivalences mapped for this node.