Growth hormone receptor

Growth hormone receptor, also known as GHR, is a human gene.

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summary_text = This gene encodes a protein that 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. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. 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 (proportional dwarfism). Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized. [cite web | title = Entrez Gene: GHR growth hormone receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2690| accessdate = ] Laron mice (that is mice genetically engeneered to not carry defective Ghr), have a dramatic reduction in body mass (only reaching 50% of the weight of normal siblings), and also show a ~40% increase in lifespan.

References

External links

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* [http://ghr.nlm.nih.gov/handbook/illustrations/gh;jsessionid=38C6FF829262C710E269F048A93E9ECC Illustration at nih.gov]
* [http://www.ebi.ac.uk/interpro/potm/2004_4/Page1.htm Overview]

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