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. |