GHR
LOCUS ID2690
GENE_SYMBOLGHR
GENE NAMEgrowth hormone receptor
SYNONYMNSGHBP, GHIP
CHROMOSOME5
HOMOLOGENE ID134
microRNAsNANA
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 altertively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. These experimental data strongly suggest that GHR blockade may present a new concept in the treatment of diabetic renal complications.11527082