VDR - vitamin D receptor Gene

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 in human. A recent study provided evidence for translation readthrough in this gene, and expression of a C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]