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Growth Hormone Receptor / GHR is 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.
Gene Name: | growth hormone receptor |
Synonyms: | GHR, Growth hormone receptor, GH receptor, Growth hormone binding protein, Serum binding protein, GHBP |
Target Sequences: | NM_000163 NP_000154.1 P10912 |
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