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 art of living is to function in society without doing violence to one’s own needs or to the needs of others. The art of mothering is to teach the art of living to children.”
—Elaine Heffner (20th century)
“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)
“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)