| GHR |
| LOCUS ID | 2690 | ||||||||||
| GENE_SYMBOL | GHR | ||||||||||
| GENE NAME | growth hormone recep | ||||||||||
| SYNONYMNS | GHBP, GHIP | ||||||||||
| CHROMOSOME | 5 | ||||||||||
| HOMOLOGENE ID | 134 |
| microRNAs | NA | NA |
| 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 rodent |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. These experimental data strongly suggest that GHR blockade may present a new concept in the treatment of diabetic renal complications. | 11527082 |