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Products Polyclonal Anti-GHR
| Catalogue number: | PA1206 |
| Price: | $200.00 |
| Reactivities: | Human, Mouse, Rat |
| Applications: | Immunohistochemistry, Western Blot |
| Size: | 100ug/vial |
| Gene: | GHR |
| Swiss prot: | P16882 |
| Form: | Lyophilized |
| Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
| Storage temp: | At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time.Avoid repeated freezing and thawing. |
| Scientific background: | The GHR locus to human chromosome 5p13.1-p12 and to mouse chromosome 15. Additionally, its gene has 9 exons that encode the receptor and several additional exons in the 5-prime untranslated region. The coding exons span at least 87 kb. GHR consists of an extracellular domain of 246 amino acids, a single transmembrane domain, and a cytoplasmic domain. Exons 3 to 7 encode the extracellular domain. There are 2 isoforms of GHR in humans, generated by retention or exclusion of exon 3 during splicing: a full-length isoform and an isoform that lacks exon 3 (d3GHR). Furthermore, the two isoforms of GHR are expressed in the placenta and appeared to be due to alternative splicing. In cirrhosis, there is a state of acquired GH resistance, as defined by high circulating GH levels with low IGF1 levels. Moreover, Mutations in the GHR gene have been demonstrated as the cause of Laron syndrome , also known as the growth hormone insensitivity syndrome (GHIS). |
| References: | 1.Barton, D. E.; Foellmer, B. E.; Wood, W. I.; Francke, U. : Chromosome mapping of the growth hormone receptor gene in man and mouse. Cytogenet. Cell Genet. 50: 137-141, 1989. 2.Godowski, P. J.; Leung, D. W.; Meacham, L. R.; Galgani, J. P.; Hellmiss, R.; Keret, R.; Rotwein, P. S.; Parks, J. S.; Laron, Z.; Wood, W. I. : Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc. Nat. Acad. Sci. 86: 8083-8087, 1989. 3.Amselem, S.; Sobrier, M.-L.; Duquesnoy, P.; Rappaport, R.; Postel-Vinay, M.-C.; Gourmelen, M.; Dallapiccola, B.; Goossens, M. : Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. J. Clin. Invest. 87: 1098-1102, 1991. |
| Additional info: | A synthetic peptide corresponding to a sequence at the N-terminal of human GHR(101-117aa, CPDYVSAGENSCYFNSS), different from the related rat sequence by one amino acid. |
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