| Immunogen | Fusionprotein | 
| Host | Rabbit | 
| Specificity | CholineAcetyltransferase,human.Doesnotappeartoworkonratormouse. | 
| SpeciesReactivity |  | 
| AntibodyType | PolyclonalAntibody | 
| EntrezGeneNumber |  | 
| EntrezGeneSummary | Cholinergicsystemsareimplicatedinnumerousneurologicfunctions.AlterationinsomecholinergicneuronsmayaccountforthedisturbancesofAlzheimerdisease.Theproteinencodedbythisgenesynthesizestheneurotransmitteracetylcholine.Alternativesplicevariantshavebeenfoundthatcontainalternative5"untranslatedexons.Threeofthefourdescribedsplicevariantsencodeidentical69kDaproteinswhileonevariantencodesboththe69kDaandalarger82kDaprotein. | 
| GeneSymbol | - CHAT
 - ChAT
 - CMS1A2
 - CHOACTase
 - CMS1A
 - EC2.3.1.6
 
  | 
| UniProtNumber |  | 
| UniProtSummary | FUNCTION:SwissProt:P28329#CatalyzesthereversIBLesynthesisofacetylcholine(ACh)fromacetylCoAandcholineatcholinergicsynapses. SIZE:748aminoacids;82568Da DISEASE:SwissProt:P28329#DefectsinCHATarethecauseoffamilialinfantilemyastheniagravis2(FIMG2)[MIM:254210,254200];alsoknownasCMS-EA.FIMG2patientshavemyasthenicsymptomssincebirthorearlyinfancy,negativetestsforanti-AChRantibodies,andabruptepisodiccriseswithincreasedweakness,bulbarparalysis,andapneaprecipitatedbyundueexertion,fever,orexcitement.Inheritanceisautosomalrecessive. SIMILARITY:SwissProt:P28329##Belongstothecarnitine/cholineacetyltransferasefamily. |