GNRHR

GONADOTROPIN-RELEASING HORMONE RECEPTOR

• OMIM 138850
• Located at chromosome 4q21.22
• Encodes the gonadotropin-releasing hormone receptor, a member of the G protein-coupled, Ca²⁺-dependent family of receptors.
• Located on the cell surface of pituitary gonadotropes, GnRHR transduces GnRH signals and modulates the synthesis and secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
• GnRHR comprises 3 exons and the corresponding mRNA (NM_000406.2) encodes a 328 amino acid protein, GNRHR.

Human genetics

• Mutations in GNRHR cause hypogonadotropic hypogonadism and are spread all over the gene.