Aliases for GHR Gene
External Ids for GHR Gene
Previous GeneCards Identifiers for GHR Gene
This gene encodes a member of the type I cytokine receptor family, which 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. 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. 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. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
GeneCards Summary for GHR Gene
GHR (Growth Hormone Receptor) is a Protein Coding gene. Diseases associated with GHR include Laron Syndrome and Growth Hormone Insensitivity, Partial. Among its related pathways are Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein phosphatase binding. An important paralog of this gene is PRLR.
UniProtKB/Swiss-Prot for GHR Gene
Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity).
The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.
Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling.