Immunogen | Humanplacentalenzyme. |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Rabbit |
Specificity | Cholinergicneuronsinbrainandcentralnervoussystems. |
SpeciesReactivity | - Human
- Rat
- Mouse
- Bat
- Feline
- Monkey
|
SpeciesReactivityNote | Human,Mouse,Rat,Monkey,Bat,Feline.ReactivitywithotherspecieshasnotbeenconfirmedwithIHC. |
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 | 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. |