PRLR Chromosome 5
Prolactin receptor
Upload your DNA to see your personal genotypes for variants in PRLR.
What This Gene Does
This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
Associated Conditions (4)
Multiple fibroadenoma of the breast
PRLR-related disorder
Premature ovarian failure
Familial hyperprolactinemia
Key Variants
RS72478580
Conflicting classifications of pathogenicity
Multiple fibroadenoma of the breast, PRLR-related disorder, Multiple fibroadenoma of the breast
Health Risk
RS748942718
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS376188691
Pathogenic
Familial hyperprolactinemia, Familial hyperprolactinemia
Health Risk
RS398122522
Pathogenic
Familial hyperprolactinemia, Familial hyperprolactinemia
Health Risk
RS754974807
Pathogenic
Familial hyperprolactinemia, Familial hyperprolactinemia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72478580 | Health Risk | Conflicting classifications of pathogenicity | Multiple fibroadenoma of the breast, PRLR-related disorder, Multiple fibroadenoma of the breast |
| RS748942718 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS376188691 | Health Risk | Pathogenic | Familial hyperprolactinemia, Familial hyperprolactinemia |
| RS398122522 | Health Risk | Pathogenic | Familial hyperprolactinemia, Familial hyperprolactinemia |
| RS754974807 | Health Risk | Pathogenic | Familial hyperprolactinemia, Familial hyperprolactinemia |