Immunogen | Humanplacentalenzyme. |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Goat |
Specificity | Cholineacetyltransferasefoundincholinergicneuronsinbrainandcentralnervoussystems. |
SpeciesReactivity | - Mouse
- Rat
- Human
- Chicken
- Avian
- GuineaPig
- Opossum
|
SpeciesReactivityNote | Rat,mouse,monkey,guineapig,chicken,opossum,avianandhuman(westernblot). |
AntibodyType | PolyclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | Thisgeneencodesanenzymewhichcatalyzesthebiosynthesisoftheneurotransmitteracetylcholine.Thisgeneproductisacharacteristicfeatureofcholinergicneurons,andchangesintheseneuronsmayexplainsomeofthesymptomsofAlzheimerdisease.Mutationsinthisgeneareassociatedwithcongenitalmyasthenicsyndromeassociatedwithepisodicapnea.Multipletranscriptvariantsencodingdifferentisoformshavebeenfoundforthisgene,andsomeofthesevariantshavebeenshowntoencodemorethanoneisoform.[providedbyRefSeq].
TranscriptVariant:Thisvariant(M)containsalternate5"exonM,usesanupstreamstartcodon,andencodesisoform2. |
GeneSymbol | - CHAT
- ChAT
- CHOACTase
- CMS1A
- CMS1A2
|
PurificationMethod | ImmunoAffinityPurified |
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 |