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:
“Morality and its victim, the mother—what a terrible picture! Is there indeed anything more terrible, more criminal, than our glorified sacred function of motherhood?”
—Emma Goldman (1869–1940)
“Our father has an even more important function than modeling manhood for us. He is also the authority to let us relax the requirements of the masculine model: if our father accepts us, then that declares us masculine enough to join the company of men. We, in effect, have our diploma in masculinity and can go on to develop other skills.”
—Frank Pittman (20th century)
“As a medium of exchange,... worrying regulates intimacy, and it is often an appropriate response to ordinary demands that begin to feel excessive. But from a modernized Freudian view, worrying—as a reflex response to demand—never puts the self or the objects of its interest into question, and that is precisely its function in psychic life. It domesticates self-doubt.”
—Adam Phillips, British child psychoanalyst. “Worrying and Its Discontents,” in On Kissing, Tickling, and Being Bored, p. 58, Harvard University Press (1993)