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 short stature due to partial ghr deficiency and laron dwarfism. Among its related pathways are PI3K-Akt signaling pathway and Immune System. GO annotations related to this gene include protein homodimerization activity and protein phosphatase binding. An important paralog of this gene is CRLF1.
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