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GHR growth hormone receptor

Also known as: GHBP; GHIP

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Familial hypercholesterolemia
MedGen: C0020445OMIM: 143890GeneReviews: Not available
See labs
Laron-type isolated somatotropin defect
MedGen: C0271568OMIM: 262500GeneReviews: Not available
See labs

Genomic context

Location:
5p13-p12
Sequence:
Chromosome: 5; NC_000005.10 (42423775..42721878)
Total number of exons:
18

Links

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