Partner proteins |
AP2A1, CISH, GH2, GHR, GRB10, GRB2, IRS1, JAK1, JAK2, NCOA6, PIK3R1, PRLR, PTPN11, PTPN2, PTPN6, SGTA, SHC1, SOCS1, SOCS2, SOCS3, STAT3, STAT5A, STAT5B, TYK2, BTRC, CISH, GH1, GRB10, GRB2, JAK1, JAK2, PIK3R1, PLCG1, PTPN11, SGTA, SHC1, SOCS1, SOCS2, SOCS3, STAT3, STAT5B, TYK2 |
Description of target |
GHR is 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.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. |