Gene Symbol | GHR |
Entrez Gene ID | 2690 |
Full Name | growth hormone receptor |
Synonyms | GHBP,GHIP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Laron dwarfism, 262500 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3); Increased responsiveness to growth hormone (3); Growth hormone insensitivity, partial, 604271 (3) |