Disease-gene associations mined from literature

Literature associating VDR and rickets

VDR [ENSP00000447173]

Vitamin D (1,25- dihydroxyvitamin D3) receptor; Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis; Belongs to the nuclear hormone receptor family. NR1 subfamily.

Synonyms:  VDR,  F1D8P8,  F8VPF8,  F8VRJ4,  F8VVY8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM