This gene encodes the nuclear hormone receptor for vitaminnD3. This receptor also functions as a receptor for the secondarynbile acid lithocholic acid. The receptor belongs to the family ofntrans-acting transcriptional regulatory factors and shows sequencensimilarity to the steroid and thyroid hormone receptors. Downstreamntargets of this nuclear hormone receptor are principally involvednin mineral metabolism though the receptor regulates a variety ofnother metabolic pathways, such as those involved in the immunenresponse and cancer. Mutations in this gene are associated withntype II vitamin D-resistant rickets. A single nucleotidenpolymorphism in the initiation codon results in an alternatentranslation start site three codons downstream. Alternativensplicing results in multiple transcript variants encoding the samenprotein.
应用类型
WB,FCM
免疫原
This VDR antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 274-299 amino acids from the Central region of human VDR.
