Growth Hormone Receptor

Alternative Names

GHR
Growth Hormone-Binding Protein
GHBP
Increased Responsiveness to Growth Hormone

Associated Diseases

Laron Syndrome

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OMIM Number

600946

Gene Map Locus

5p13-p12

Description

The growth hormone receptor (GHR) protein consists of 638 amino acids and has a molecular weight of 71,500 kDa. The protein is encoded by the GHR gene located on 5p14-p12.

GHR protein acts as a transmembrane receptor for growth hormone. The binding of growth hormone to the receptor results in dimerization of the receptor and the activation of the intra- and intercellular signal transduction pathway directing to growth. A common alternative allele of this gene, named GHRd3, is deficient in exon three and has been well described.

Molecular Genetics

Mutations in GHR were correlated with Laron syndrome. These mutations influence the extracellular domain of the GHR producing low growth hormone binding protein levels (GHBP) and defective IGF-I production. Patients with mutations in the extracellular domain of the GHR possess low levels of GHBP while cases with mutations within the intracellular domain have normal GHBP levels.

Epidemiology in the Arab World

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Other Reports

Iraq

Laron (2004) reviewed the results obtained from a multiethnic cohort of patients including 6 Jewish Iraqis with Laron syndrome. Three of the patients had an R211H mutation in exon 7 of the GHR gene, while the other three exhibited the W-15X signal peptide mutation [See also: Morocco, Palestine, Yemen > Laron, 2004].

Morocco

Laron (2004) reviewed the results obtained from a multiethnic cohort of Laron syndrome patients including one Jewish Moroccan with the E180 splice mutation in intron 6 of the GR gene [See also: Iraq, Palestine, Yemen > Laron, 2004].

Palestine

Laron (2004) reviewed the results obtained from a multiethnic cohort of patients including 7 Palestinians with Laron syndrome. Four of the patients had the R217X mutation in exon 7 of the GHR gene. In the remaining three, a mutation could not be found, but a post receptor defect was raised as a possibility [See also: Iraq, Morocco, Yemen > Laron, 2004].

Yemen

Laron (2004) reviewed the results obtained from a multiethnic cohort of Laron syndrome patients including 3 Jewish Yemenites with the R217X mutation in exon 7 of the GHR gene [See also: Iraq, Morocco, Palestine > Laron, 2004].

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=GHR

Contributors

Ghazi O. Tadmouri: 18.05.2011

Edit History

Tasneem Obeid: 19.05.2011