This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. The precise location of this cleavage site has not been determined for the human protein
Growth hormone (GH) is secreted by the anterior pituitary and functions by binding specific growth hormone receptor (GHR). GH stimulates the secretion of insulin-like growth factor-1 th at mediates some of its growth promoting actions. The activity of GH/GHR is important for normal physiology and aging processes.
