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Description; Immunogen; Synthetic peptide directed towards the middle region of human CHRNB2; Physical form; Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.; Disclaimer; Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.; Biochem/physiol Actions; Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as psychiatric disorders or cognitive defects. A new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster. The CHRNB2 mutation I312M, which occurred de novo in twins, markedly increases the receptor′s sensitivity to acetylcholine. Phenotypically, the mutation is associated not only with typical ADNFLE, but also with distinct deficits in memory. The cognitive problems are most obvious in tasks requiring the organization and storage of verbal information.; Sequence; Synthetic peptide located within the following region: KIEVKHFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDI
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