Vitamin D receptor
Vitamin D receptor (VDR) is a member of the nuclear receptor family of transcription factors. Upon activation by vitamin D, the VDR forms a heterodimer with the retinoid-X receptor and binds to hormone response elements on DNA resulting in expression or transrepression of specific gene products.
Function[edit | edit source]
The VDR is involved in cell proliferation and differentiation. Vitamin D and its analogs modulate a variety of biological responses, inhibiting the growth of malignant cells, modulating the immune response, and regulating differentiation of normal and malignant cells. The VDR is expressed in a large number of tissues including the bone, intestine, kidney, colon, brain cells, immune cells, and breast tissue.
Structure[edit | edit source]
The VDR belongs to the family of trans-acting transcriptional regulatory factors. The receptor has a DNA-binding domain (DBD), and a ligand binding domain (LBD). The DBD is highly conserved among the various nuclear receptors, while the LBD is more specific, defining the individuality of each receptor.
Clinical significance[edit | edit source]
Mutations in the VDR gene are associated with rickets, a disease caused by vitamin D deficiency. In addition, polymorphisms in the VDR gene have been linked to an increased risk of autoimmune diseases, including type 1 diabetes, multiple sclerosis, and rheumatoid arthritis.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD