Growth hormone receptor
The GHR gene encodes a transmembrane receptor for growth hormone which is a member of the type I cytokine receptor family. Binding of the hormone leads to dimerization and signal transduction pathway through several factors called sometomedines. Among them, somatomedin C, also known as IGF1, is the most important. Inactivation includes the cleavage of the extracellular hormone binding domain which then can be measured in plasma as growth hormone binding protein (GHBP). Loss-of-function mutations in this gene cause autosomal recessive Laron syndrome and autosomal dominant short stature syndrome (growth hormone resistance). Gain-of-function mutations cause growth hormone hypersensitivity. Also variations are associated with hypercholesterolemia.
Gene Structure
There exists an common polymorphism in the GHR gene that includes a large deletion of the whole exon 3. This allele is called GHRd3 while the allele with exon 3 present is GHRfl. The frequencies of the three genotypes are as follows: GHRfl/GHRfl 35-53%, GHRfl/GHRd3 33–58%, and GHRd3/GHRd3 7-26%. The GHRd3 allele seems a bit more sensitive to growth hormone. The deletion is probabl the result of a retroviral infection late in evolutionary history.[Error: Macro 'ref' doesn't exist]
Genetests:
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References:
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OMIM.ORG article
Omim 600946
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Orphanet article
Orphanet ID 122095
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NCBI article
NCBI 2690
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Wikipedia article
Wikipedia EN (Growth_hormone_receptor)
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Update: Aug. 14, 2020