|Other Names||Acetylcholine receptor subunit gamma, CHRNG, ACHRG|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.|
|Cellular Location||Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein|
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The mammalian muscle-type acetylcholine receptor is atransmembrane pentameric glycoprotein with two alpha subunits, onebeta, one delta, and one epsilon (in adult skeletal muscle) orgamma (in fetal and denervated muscle) subunit. This gene, whichencodes the gamma subunit, is expressed prior to the thirty-thirdweek of gestation in humans. The gamma subunit of the acetylcholinereceptor plays a role in neuromuscular organogenesis and ligandbinding and disruption of gamma subunit expression prevents thecorrect localization of the receptor in cell membranes. Mutationsin this gene cause Escobar syndrome and a lethal form of multiplepterygium syndrome. Muscle-type acetylcholine receptor is the majorantigen in the autoimmune disease myasthenia gravis.
Saccone, N.L., et al. Genes Brain Behav. (2010) In press :Gratacos, M., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6), 808-816 (2009) :Saccone, N.L., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (4), 453-466 (2009) :Zouridakis, M., et al. Biochim. Biophys. Acta 1794(2):355-366(2009)Chang, B., et al. Int. J. Surg. Pathol. 17(1):6-15(2009)
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