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:
““... The state’s one function is to give.
The bud must bloom till blowsy blown
Its petals loosen and are strown;
And that’s a fate it can’t evade
Unless ‘twould rather wilt than fade.””
—Robert Frost (1874–1963)
“Nobody seriously questions the principle that it is the function of mass culture to maintain public morale, and certainly nobody in the mass audience objects to having his morale maintained.”
—Robert Warshow (1917–1955)
“My function in life is not to be a politician in Parliament: it is to get something done.”
—Bernadette Devlin (b. 1947)