Growth Hormone Receptor (GHR)
[Edit]GHBP; Somatotropin receptor; Growth hormone-binding protein; Serum-binding protein
Growth hormone receptor, also known as GHR, 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.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPB036Hu01 | Recombinant Growth Hormone Receptor (GHR) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAB036Hu01 | Polyclonal Antibody to Growth Hormone Receptor (GHR) | WB; ICC; IHC-P; IHC-F; ELISA. |
MAB036Hu22 | Monoclonal Antibody to Growth Hormone Receptor (GHR) | WB; IHC; ICC; IP. | |
MAB036Hu21 | Monoclonal Antibody to Growth Hormone Receptor (GHR) | WB; IHC; ICC; IP. | |
Assay Kits | SEB036Hu | ELISA Kit for Growth Hormone Receptor (GHR) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPB036Mu01 | Recombinant Growth Hormone Receptor (GHR) | Positive Control; Immunogen; SDS-PAGE; WB. |
RPB036Mu02 | Recombinant Growth Hormone Receptor (GHR) | Positive Control; Immunogen; SDS-PAGE; WB. | |
Antibodies | PAB036Mu01 | Polyclonal Antibody to Growth Hormone Receptor (GHR) | WB; IHC; ICC; IP. |
PAB036Mu02 | Polyclonal Antibody to Growth Hormone Receptor (GHR) | WB; IHC; ICC; IP. | |
Assay Kits | SEB036Mu | ELISA Kit for Growth Hormone Receptor (GHR) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPB036Ra01 | Recombinant Growth Hormone Receptor (GHR) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAB036Ra01 | Polyclonal Antibody to Growth Hormone Receptor (GHR) | WB; IHC; ICC; IP. |
Assay Kits | n/a | CLIA Kit for Growth Hormone Receptor (GHR) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Growth Hormone Receptor (GHR) | ELISA Kit Customized Service Offer |
Organism species: Sus scrofa; Porcine (Pig)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Growth Hormone Receptor (GHR) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Growth Hormone Receptor (GHR) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Growth Hormone Receptor (GHR) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | SEB036Po | ELISA Kit for Growth Hormone Receptor (GHR) | Enzyme-linked immunosorbent assay for Antigen Detection. |
- "Growth hormone receptor and serum binding protein: purification, cloning and expression."Nature 330:537-543(1987) [PubMed] [Europe PMC] [Abstract]
- "Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism."Proc. Natl. Acad. Sci. U.S.A. 86:8083-8087(1989) [PubMed] [Europe PMC] [Abstract]
- "Expression of a human growth hormone (hGH) receptor isoform is predicted by tissue-specific alternative splicing of exon 3 of the hGH receptor gene transcript."Mol. Endocrinol. 6:279-287(1992) [PubMed] [Europe PMC] [Abstract]
- "Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein."Proc. Natl. Acad. Sci. U.S.A. 93:10723-10728(1996) [PubMed] [Europe PMC] [Abstract]
- "A membrane-fixed, truncated isoform of the human growth hormone receptor."J. Clin. Endocrinol. Metab. 82:3813-3817(1997) [PubMed] [Europe PMC] [Abstract]
- "A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein."Mol. Endocrinol. 11:265-273(1997) [PubMed] [Europe PMC] [Abstract]
- "Functional characterization of the alternatively spliced, placental human growth hormone receptor."J. Biol. Chem. 268:19025-19032(1993) [PubMed] [Europe PMC] [Abstract]
- "Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution."J. Biol. Chem. 275:18664-18669(2000) [PubMed] [Europe PMC] [Abstract]
- "The human growth hormone receptor. Secretion from Escherichia coli and disulfide bonding pattern of the extracellular binding domain."J. Biol. Chem. 265:3111-3115(1990) [PubMed] [Europe PMC] [Abstract]
- "Identification of a region critical for proteolysis of the human growth hormone receptor."Biochem. Biophys. Res. Commun. 290:851-857(2002) [PubMed] [Europe PMC] [Abstract]
- "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
- "Human growth hormone and extracellular domain of its receptor: crystal structure of the complex."Science 255:306-312(1992) [PubMed] [Europe PMC] [Abstract]
- "Crystal structure of an antagonist mutant of human growth hormone, G120R, in complex with its receptor at 2.9-A resolution."J. Biol. Chem. 271:32197-32203(1996) [PubMed] [Europe PMC] [Abstract]
- "Laron dwarfism and mutations of the growth hormone-receptor gene."N. Engl. J. Med. 321:989-995(1989) [PubMed] [Europe PMC] [Abstract]
- "Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome."J. Clin. Endocrinol. Metab. 76:54-59(1993) [PubMed] [Europe PMC] [Abstract]
- "Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome."Hum. Mol. Genet. 2:355-359(1993) [PubMed] [Europe PMC] [Abstract]
- "Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism."J. Clin. Invest. 91:838-844(1993) [PubMed] [Europe PMC] [Abstract]
- "A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization."EMBO J. 13:1386-1395(1994) [PubMed] [Europe PMC] [Abstract]
- "Mutations of the growth hormone receptor in children with idiopathic short stature."N. Engl. J. Med. 333:1093-1098(1995) [PubMed] [Europe PMC] [Abstract]
- "Nine novel growth hormone receptor gene mutations in patients with Laron syndrome."J. Clin. Endocrinol. Metab. 82:435-437(1997) [PubMed] [Europe PMC] [Abstract]
- "A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue."J. Clin. Endocrinol. Metab. 83:2554-2561(1998) [PubMed] [Europe PMC] [Abstract]
- "Growth hormone receptor mutations in children with idiopathic short stature."J. Clin. Endocrinol. Metab. 83:4079-4083(1998) [PubMed] [Europe PMC] [Abstract]
- "Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor."J. Clin. Endocrinol. Metab. 83:4481-4489(1998) [PubMed] [Europe PMC] [Abstract]
- "Characterization of single-nucleotide polymorphisms in coding regions of human genes."Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]
- ErratumNat. Genet. 23:373-373(1999)
- "Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation."Eur. J. Endocrinol. 143:71-76(2000) [PubMed] [Europe PMC] [Abstract]
- "Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred."Am. J. Med. Genet. A 121:136-140(2003) [PubMed] [Europe PMC] [Abstract]
- "The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: suppression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration."Clin. Endocrinol. (Oxf.) 60:36-40(2004) [PubMed] [Europe PMC] [Abstract]