Function
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows similarity of sequence to the steroid and thyroid hormone receptors.
Downstream targets of this nuclear hormone receptor are involved principally in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer.
Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein.
The vitamin D receptor plays an important role in regulating the hair cycle. Loss of VDR is associated with hair loss in experimental animals.
Read more about this topic: Calcitriol Receptor
Famous quotes containing the word function:
“My function in life is not to be a politician in Parliament: it is to get something done.”
—Bernadette Devlin (b. 1947)
“For me being a poet is a job rather than an activity. I feel I have a function in society, neither more nor less meaningful than any other simple job. I feel it is part of my work to make poetry more accessible to people who have had their rights withdrawn from them.”
—Jeni Couzyn (b. 1942)
“Every boy was supposed to come into the world equipped with a father whose prime function was to be our father and show us how to be men. He can escape us, but we can never escape him. Present or absent, dead or alive, real or imagined, our father is the main man in our masculinity.”
—Frank Pittman (20th century)