Synthetic peptide directed towards the middle region of human CHRNB2
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
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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