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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
GHR-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
GHR-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
GHR-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
GHR-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
GHR-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : GHR
Gene Name : Growth hormone receptor
Chromosome : CHR 5: 424,237,74-427,218,77
Locus : 5p13.1-p12
Alt. Genes : OPTN
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