" /> GHR wt Allele - CISMeF





Preferred Label : GHR wt Allele;

NCIt synonyms : Growth Hormone Receptor wt Allele; GHBP;

NCIt definition : Human GHR wild-type allele is located within 5p13-p12 and is approximately 302 kb in length. This allele, which encodes growth hormone receptor protein, plays a role in signal transduction and in growth hormone receptor regulation that leads to cellular growth.;

NCIt note : 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.;

GenBank Accession Number : NM_000163;

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13/05/2024


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