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.
Applications:Suitable for use in Immunohistochemistry, Western Blot.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by Protein A affinity chromatography.
Form：Supplied as a liquid in PBS, 2% sucrose, 0.09% sodium azide.
Specificity：Recognizes human CHRNB2.
Isotype：IgG
Calc Applications Abbrev：IHC WB
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide corresponding to the middle region of human CHRNB2
