Protein Name growth hormone receptor
Organism Homo sapiens
Gene ID 2690
Gene Symbol

GHR

UniProt P10912 (GHR_HUMAN), A0A087X0H5 (A0A087X0H5_HUMAN), A0A087X162 (A0A087X162_HUMAN)
Relationships Total Number of functionally related compound(s) : 206
Total Number of Articles : 474
Description

growth hormone receptor

Gene Summary

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]

synonyms
  • growth hormone receptor
  • GH receptor
  • growth hormone binding protein
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Properties