Immunogen | Humanplacentalenzyme. |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Goat |
Specificity | Recognizescholinergicneuronsinbrainandcentralnervoussystems. |
SpeciesReactivity | |
AntibodyType | PolyclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | Cholinergicsystemsareimplicatedinnumerousneurologicfunctions.AlterationinsomecholinergicneuronsmayaccountforthedisturbancesofAlzheimerdisease.Theproteinencodedbythisgenesynthesizestheneurotransmitteracetylcholine.Alternativesplicevariantshavebeenfoundthatcontainalternative5"untranslatedexons.Threeofthefourdescribedsplicevariantsencodeidentical69kDaproteinswhileonevariantencodesboththe69kDaandalarger82kDaprotein. |
GeneSymbol | - CHAT
- ChAT
- CHOACTase
- CMS1A
- CMS1A2
|
PurificationMethod | Unpurified |
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. |
MolecularWeight | 70kDa |