| 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. |