Very important pharmacogene summary for VDR

摘要

The vitamin D receptor (VDR) binds the active form of vitamin D (1,25-dihydroxyvitamin D_3). It belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. The gene was cloned by Baker and colleagues in 1988 and maps to chromosome 12ql3.11 [1]. It consists of nine exons with at least sixisoforms of exon 1, spans 63.5 kb, and encodes a 427 amino acid protein [2]. Alternative splicing results in multiple transcript variants encoding the VDR protein of different lengths [3,4].