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Human Growth Hormone Receptor Protein expressed in HEK-293 Cells - ABIN2181159
Ghizzoni, Duquesnoy, Torresani, Vottero, Goossens, Bernasconi: Isolated growth hormone deficiency type IA associated with a 45-kilobase gene deletion within the human growth hormone gene cluster in an Italian family. in Pediatric research 1995
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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.
, growth hormone binding protein
, serum binding protein
, somatotropin receptor
, Growth hormone receptor precursor (GH receptor) (GH binding protein) (GHBP) (Serum binding protein)
, growth hormone receptor/binding protein
, growth hormone receptor precursor splice variant D56
, growth hormone receptor variant d5-6
, growth hormone receptor
, growth hormone-binding protein
, serum-binding protein
, Somatotropin receptor