• 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.
 Last updated on 17/06/2018 at 14:34