Overview

The VDR is a 1,25 dihydroxyvitamin D3-activated member of the nuclear receptor superfamily of transcription factors. It plays critical roles in calcium homeostasis, bone development and mineralization, as well as control of cell growth and differentiation.

Expression

VDR is expressed primarily in the gastrointestinal system (duodenum, jejunum, ileum, colon) with moderate levels in the kidney, thyroid, bone and skin and lower levels in other organs.

View full NURSA VDR expression dataset

Diseases

VDR dysfunction is associated with bone disorders (osteoporosis, vitamin D-resistant rickets, osteoarthritis, osteoporosis, loss of bone density, osteopenia, spinal ossification), cancer (bone cancer, breast cancer, colorectal cancer, leukemia, melanoma, prostate cancer, renal cell carcinoma), cardiovascular pathologies (atherosclerosis, hypertension, myocardial infarct), immune, metabolic and inflammation diseases (Type II diabetes, Addison's disease, autoimmune hepatitis, Crohn's Disease, Lupus, cirrhosis, arthritis, asthma, periodontitis, mulitple sclerosis, psoriasis), susceptibility to infection (AIDS, Q fever, leprosy, tuberculosis), renal conditions (kidney stone disease), neurological disorders (amyotrophic lateral sclerosis, Alzheimer's disease) and growth disorders (low birth weight, low body mass).

Phenotypes

Targeted disruption of VDR results in: defects in the hearing and vestibular system, the immune system, homeostasis and metabolism, the nervous system, the reproductive system and the renal/urinary system; vitamin D-dependent rickets; impaired bone formation, impaired growth, impaired craniafacial development and uterine hypoplasia.

View VDR Diseases and Phenotypes section