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 function of comedy is to dispel ... unconsciousness by turning the searchlight of the keenest moral and intellectual analysis right on to it.”
—George Bernard Shaw (1856–1950)
“The function of literature, through all its mutations, has been to make us aware of the particularity of selves, and the high authority of the self in its quarrel with its society and its culture. Literature is in that sense subversive.”
—Lionel Trilling (1905–1975)
“Uses are always much broader than functions, and usually far less contentious. The word function carries overtones of purpose and propriety, of concern with why something was developed rather than with how it has actually been found useful. The function of automobiles is to transport people and objects, but they are used for a variety of other purposes—as homes, offices, bedrooms, henhouses, jetties, breakwaters, even offensive weapons.”
—Frank Smith (b. 1928)