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Millipore/MAB2265 | Anti-Peripheral Myelin Protein 22 (PMP22) Antibody, clone CF1/MAB2265/100 µg

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貨號: MAB2265

品牌: Millipore

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Description
CatalogueNumber	MAB2265
Description	Anti-PeripheralMyelinProtein22(PMP22)Antibody,cloneCF1
AlternateNames	peripheralmyelinprotein22 Growtharrest-specificprotein3 growtharrest-specific3
BackgroundInformation	Peripheralmyelinprotein22(PMP22),a160aminoacidglycoprotein,belongstotheclaudinfamilyofproteins.PMP22isthoughttohaveacriticalroleinexternalmesaxonformationduringdevelopmentaswellaspotentialinvolvementintheprogressionofaxonmyelination.ThisglycoproteinhasfourhydrophobicdomainsafeaturewhichgivesrisetoanotherpotentialroleforPMP22inthestructureofperipheralnervemyelin.PMP22hasbeenobservedincompactmyelinfoundwithintheperipheralnerveofhumanadult,andhasbeennotedashavingadistributionsimilartothatofmyelinProteinzero(PO).DefectsinPMP-22expressionarecausaltoseveralhereditarydemyelinatingneuropathiesincluding;inflammatorydemyelinatingpolyneuropathy(IDP),hereditaryneuropathywithliABIlitytopressurepalsies(HNPP),Charcot-Marie-ToothdiseaseType1A(CMT1A)andtype1E(CMT1E),andDejerine-Sottassyndrome(DSS).

ProductInformation
Format	Purified
Control	Humannormalcortextissue
Presentation	PurifiedmousemonoclonalIgG1κinbuffercontaining0.1MTris-Glycine(pH7.4),150mMNaClwith0.05%sodiumazide.

StorageandShippingInformation
StorageConditions	Stablefor1yearat2-8°Cfromdateofreceipt.

Applications
Application	Anti-PeripheralMyelinProtein22(PMP22)Antibody,cloneCF1isanantibodyagainstPeripheralMyelinProtein22(PMP22)foruseinIH.
KeyApplications	Immunohistochemistry

BIOLOGicalInformation
Immunogen	HumanPMP22CDNAboostedwith13-merpeptideofthesecondextracellulardomainofPMP22
Epitope	Unknown
Clone	CF1
Concentration	PleaserefertotheCertificateofAnalysisforthelot-specificconcentration.
Host	Mouse
Specificity	Thisantibodyrecognizesperipheralmyelinprotein22(PMP22)
Isotype	IgG1κ
SpeciesReactivity	Human
AntibodyType	MonoclonalAntibody
EntrezGeneNumber	NP_000295
EntrezGeneSummary	Thisgeneencodesanintegralmembraneproteinthatisamajorcomponentofmyelinintheperipheralnervoussystem.VariousmutationsofthisgenearecausesofCharcot-Marie-ToothdiseaseTypeIA,Dejerine-Sottassyndrome,andhereditaryneuropathywithliabilitytopressurepalsies.Alternativesplicingofthisgeneresultsinthreetranscriptvariantsthatencodethesameprotein.[providedbyRefSeq].
GeneSymbol	PMP22 GAS3 CMT1A PMP-22 DSS CMT1E GAS-3 HMSNIA HNPP Sp110
PurificationMethod	ProteinG
UniProtNumber	Q01453
UniProtSummary	FUNCTION:Mightbeinvolvedingrowthregulation,andinmyelinizationintheperipheralnervoussystem. SUBCELLULARLOCATION:Membrane;Multi-passmembraneprotein. INVOLVEMENTINDISEASE:DefectsinPMP22arethecauseofCharcot-Marie-Toothdiseasetype1A(CMT1A)[MIM:118220];alsoknownashereditarymotorandsensoryneuropathyIA.CMT1AisaformofCharcot-Marie-Toothdisease,themostcommoninheriteddisorderoftheperipheralnervoussystem.Charcot-Marie-Toothdiseaseisclassifiedintwomaingroupsonthebasisofelectrophysiologicpropertiesandhistopathology:primaryperipheraldemyelinatingneuropathyorCMT1,andprimaryperipheralaxonalneuropathyorCMT2.NeuropathiesoftheCMT1grouparecharacterizedbyseverelyreducednerveconductionvelocities(lessthan38m/sec),segmentaldemyelinationandremyelinationwithonionbulbformationsonnervebiopsy,slowlyprogressivedistalmuscleatrophyandweakness,absentdeeptendonreflexes,andhollowfeet.CMT1Ainheritanceisautosomaldominant. DefectsinPMP22areacauseofDejerine-Sottassyndrome(DSS)[MIM:145900];alsoknownasDejerine-Sottasneuropathy(DSN)orhereditarymotorandsensoryneuropathyIII(HMSN3).DSSisaseveredegeneratingneuropathyofthedemyelinatingCharcot-Marie-Toothdiseasecategory,withonsetbyage2years.DSSischaracterizedbymotorandsensoryneuropathywithveryslownerveconductionvelocities,increasedcerebrospinalfluidproteinconcentrations,hypertrophicnervechanges,delayedageofwalkingaswellasareflexia.TherearebothautosomaldominantandautosomalrecessiveformsofDejerine-Sottassyndrome.Ref.10Ref.11Ref.14Ref.15Ref.18Ref.19Ref.20Ref.21Ref.24Ref.25Ref.26Ref.28Ref.31Ref.33Ref.37Ref.41 DefectsinPMP22areacauseofhereditaryneuropathywithliabilitytopressurepalsies(HNPP)[MIM:162500];anautosomaldominantdisordercharacterizedbytransientepisodesofdecreasedperceptionorperipheralnervepalsiesafterslighttraction,compressionorminortraumas.Ref.29Ref.44Ref.45 DefectsinPMP22arethecauseofCharcot-Marie-Toothdiseasetype1E(CMT1E)[MIM:118300];alsoknownasCharcot-Marie-Toothdiseaseanddeafnessautosomaldominant.CMT1EisanautosomaldominantformofCharcot-Marie-Toothdiseasecharacterizedbytheassociationofsensorineuralhearinglosswithperipheraldemyelinatingneuropathy. DefectsinPMP22maybeacauseofinflammatorydemyelinatingpolyneuropathy(IDP)[MIM:139393].IDPisaputativeautoimmunedisorderpresentinginanacute(AIDP)orchronicform(CIDP).TheacuteformisalsoknownasGuillain-Barresyndrome. SEQUENCESIMILARITIES:BelongstothePMP-22/EMP/MP20family.
MolecularWeight	18kDacalculated

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Millipore/MAB2265 | Anti-Peripheral Myelin Protein 22 (PMP22) Antibody, clone CF1/MAB2265/100 µg

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