NCIt synonyms : Vitamin D Receptor wt Allele; NR1I1; PPP1R163; Protein Phosphatase 1, Regulatory Subunit 163 Gene; Vitamin D (1,25- Dihydroxyvitamin D3) Receptor Gene;
NCIt 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.;