PRLR
The PRLR Gene: A Comprehensive Guide
Description
The PRLR gene is located on chromosome 5q14.3 and encodes the prolactin receptor (PRLR), a membrane-bound protein that binds to prolactin, a hormone produced by the pituitary gland. Prolactin plays a crucial role in lactation, mammary gland development, and reproduction.
Associated Diseases
Mutations in the PRLR gene have been linked to several diseases, including:
- Hyperprolactinemia: Excessive production of prolactin, leading to infertility, menstrual irregularities, and galactorrhea (breast milk production outside of pregnancy).
- Dopamine Agonist Resistance in Prolactinoma: Prolactinoma is a tumor of the pituitary gland that secretes prolactin. Mutations in the PRLR gene can make these tumors resistant to dopamine agonists, the primary medical treatment for prolactinoma.
- Familial Isolated Pituitary Adenoma (FIPA): A rare disorder characterized by the development of pituitary adenomas, tumors that secrete hormones such as prolactin.
Did you Know ?
Approximately 0.1-0.5% of people are estimated to have mutations in the PRLR gene.
