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

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

價格: ￥3816.00 市場價: 6360.00
貨號: MAB2265
品牌: Millipore
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    • Description
      CatalogueNumberMAB2265
      DescriptionAnti-PeripheralMyelinProtein22(PMP22)Antibody,cloneCF1
      AlternateNames
      • peripheralmyelinprotein22
      • Growtharrest-specificprotein3
      • growtharrest-specific3
      BackgroundInformationPeripheralmyelinprotein22(PMP22),a160aminoacidglycoprotein,belongstotheclaudinfamilyofproteins.PMP22isthoughttohaveacriticalroleinexternalmesaxonformationduringdevelopmentaswellaspotentialinvolvementintheprogressionofaxonmyelination.ThisglycoproteinhasfourhydrophobicdomainsafeaturewhichgivesrisetoanotherpotentialroleforPMP22inthestructureofperipheralnervemyelin.PMP22hasbeenobservedincompactmyelinfoundwithintheperipheralnerveofhumanadult,andhasbeennotedashavingadistributionsimilartothatofmyelinProteinzero(PO).DefectsinPMP-22expressionarecausaltoseveralhereditarydemyelinatingneuropathiesincluding;inflammatorydemyelinatingpolyneuropathy(IDP),hereditaryneuropathywithliABIlitytopressurepalsies(HNPP),Charcot-Marie-ToothdiseaseType1A(CMT1A)andtype1E(CMT1E),andDejerine-Sottassyndrome(DSS).
      ProductInformation
      FormatPurified
      Control
      • Humannormalcortextissue
      PresentationPurifiedmousemonoclonalIgG1κinbuffercontaining0.1MTris-Glycine(pH7.4),150mMNaClwith0.05%sodiumazide.
      StorageandShippingInformation
      StorageConditionsStablefor1yearat2-8°Cfromdateofreceipt.
      Applications
      ApplicationAnti-PeripheralMyelinProtein22(PMP22)Antibody,cloneCF1isanantibodyagainstPeripheralMyelinProtein22(PMP22)foruseinIH.
      KeyApplications
      • Immunohistochemistry
      BIOLOGicalInformation
      ImmunogenHumanPMP22CDNAboostedwith13-merpeptideofthesecondextracellulardomainofPMP22
      EpitopeUnknown
      CloneCF1
      ConcentrationPleaserefertotheCertificateofAnalysisforthelot-specificconcentration.
      HostMouse
      SpecificityThisantibodyrecognizesperipheralmyelinprotein22(PMP22)
      IsotypeIgG1κ
      SpeciesReactivity
      • Human
      AntibodyTypeMonoclonalAntibody
      EntrezGeneNumber
      EntrezGeneSummaryThisgeneencodesanintegralmembraneproteinthatisamajorcomponentofmyelinintheperipheralnervoussystem.VariousmutationsofthisgenearecausesofCharcot-Marie-ToothdiseaseTypeIA,Dejerine-Sottassyndrome,andhereditaryneuropathywithliabilitytopressurepalsies.Alternativesplicingofthisgeneresultsinthreetranscriptvariantsthatencodethesameprotein.[providedbyRefSeq].
      GeneSymbol
      • PMP22
      • GAS3
      • CMT1A
      • PMP-22
      • DSS
      • CMT1E
      • GAS-3
      • HMSNIA
      • HNPP
      • Sp110
      PurificationMethodProteinG
      UniProtNumber
      UniProtSummaryFUNCTION: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.
      MolecularWeight18kDacalculated
      PhysicochemicalInformation
      Dimensions
      MaterialsInformation
      MaterialsInformation
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