VDR

Full Name: Vitamin D Receptor

Genomic Location: Chromosome 12:47,841,537-47,943,048

Protein Size: 427 amino acids

Function:

This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets.

Linked SNP(s):

  • rs1544410 is linked to VDR, it is located within an intronic region.
  • Population frequencies are approximately 66% for the reference allele (G) and 34% for the alternate allele (A).
  • Studies suggest the A allele is associated with reduced levels of vitamin D in plasma.

  • rs731236 is linked to VDR, it is located within the protein coding region.
  • Population frequencies are approximately 67% for the reference allele (T) and 33% for the alternate allele (C).
  • Studies suggest the C allele is associated with an increased incidence of restless leg syndrome.
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