Immunogen | Nativetyrosinehydroxylasefromratpheochromocytoma(J.Biol.Chem.,1982,257:9416-9423). |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Sheep |
Specificity | TyrosineHydroxylase(TH,TyrosineMonooxygenase).Cross-reactswithallmammalianformstestedtodateandsomenon-mammalianforms. |
SpeciesReactivity | |
AntibodyType | PolyclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | Tyrosinehydroxylaseisinvolvedintheconversionoftyrosinetodopamine.Astherate-limitingenzymeinthesynthesisofcatecholamines,tyrosinehydroxylasehasakeyroleinthephysiologyofadrenergicneurons.MutationsinthisgenehavebeenassociatedwithautosomalrecessiveSegawasyndrome.Alternativelysplicedtranscriptvariantsencodingdifferentisoformshavebeennotedforthisgene.[providedbyRefSeq].
TranscriptVariant:Thisvariant(2)usesadifferentdonorsplicesiteatthefirstcodingexonandismissinganadjacentin-framecodingexoncomparedtotranscriptvariant1,resultinginanisoform(b)missinga31aasegmentcomparedtoisoforma. |
GeneSymbol | |
PurificationMethod | ImmunoAffinityPurified |
UniProtNumber | |
UniProtSummary | FUNCTION:SwissProt:P07101#Playsanimportantroleinthephysiologyofadrenergicneurons. COFACTOR:Fe(2+)ion. SIZE:528aminoacids;58524Da TISSUESPECIFICITY:Mainlyexpressedinthebrainandadrenalglands. DISEASE:SwissProt:P07101#DefectsinTHarethecauseofautosomalrecessiveSegawasyndrome[MIM:605407];alsoknownasDOPA-responsivedystonia.Typically,itbeginsinchildhoodoradolescencewithprogressivedifficultyinwalkingand,insomecases,spasticity.Somecasespresentwithparkinsoniansymptomsininfancyandarereferredtoasautosomalrecessiveinfantileparkinsonism. SIMILARITY:SwissProt:P07101##Belongstothebiopterin-dependentaromaticaminoacidhydroxylasefamily. |
MolecularWeight | ~60kDa |