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Functional_antibody >
PhosphoSolutions/ABCA4 (Rim Protein) Antibody/115-ABCA4/100 µl
Mousemonoclonalantibody
- Size:
- 100µl
- Formulation:
- ProteinGPurified
- Specificity:
- Mouse,Human,Xenopus,Bovine
- Applications:
- WB1:1,000IHC1:100
- Species:
- Mouse
- MolecularReference:
- ~220kDa
- CiteThisAntibody:
- PhosphoSolutionsCat#115-ABCA4,RRID:AB_2492034
Antigen/Purification:Collapse
Theantigenisapartiallypurifiedbovine~220kDadiscrimprotein.
TheantibodyisProteinGpurifiedculturesupernatant.
BIOLOGicalSignificance:Collapse
ABCA4(ATP-bindingcassette,sub-familyA(ABC1),member4,RimProtein)isamemberofthesuperfamilyofATP-bindingcassette(ABC)transporters(Illingetal.,1997).ABCproteinstransportvariousmoleculesacrossextra-andintracellularmembranes.Thisproteinisaretina-specificABCtransporterwithN-retinylidene-PEasasubstrate.Itisexpressedexclusivelyinretinaphotoreceptorcells,indicatingthegeneproductmediatestransportofanessentialmoleculeacrossthephotoreceptorcellmembrane.MutationsinthisgenearefoundinpatientsdiagnosedwithStargardtdiseaseandareassociatedwithretinitispigmentosa-19andage-relatedmaculardegeneration(Wiszniewskietal.,2003).DefectsinABCA4arethecauseofStargardtdiseasetype1(STGD1)(Moldayetal.,2000).STGDisoneofthemostfrequentcausesofmaculardegenerationinchildhood.DefectsinABCA4arealsoknowntocausefundusflavimaculatus(FFM),age-relatedmaculardegenerationtype2(ARMD2)andcone-roddystrophytype3(CORD3)(Kleveringetal.,2005).
Storage
100µlin10mMHEPES(pH7.5),150mMNaCl,100µgpermlBSAand50%glycerol.Adequateamountofmaterialtoconduct10-miniWesternBlots.
Forlongtermstorage–20°Cisrecommendedinundilutedaliquots.Stableat–20°Cfor uptooneyearafterdateofreceipt.Avoidfreeze/thawcycles.
GeneralReferences
MichelleIlling,LaurieL.MoldayandRobertS.Molday.The220-kDaRimProteinofRetinalRodOuterSegmentsIsaMemberoftheABCTransporterSuperfamily.J.Biol.Chem.,(1997)Vol272(15)IApril11.10303-10310.
KleveringBJ,DeutmanAF,MaugeriA,CremersFP,HoyngCB(2005)ThespectrumofretinalphenotypescasuedbymutationsintheABCA4gene.GraefesArchClinExpOphthalmol.243(2):90-100.
Molday,L.etal.,ABCRexpressioninfovealconephotoreceptorsanditsroleinStargardtmaculardystrophy.NatureGenetics(2000)25,257–258.
Wiszniewski,W.etal.,ABCA4mutationscausingmislocalizationarefoundfrequentlyinpatientswithsevereretinaldystrophies.HumanMolecularGenetics(2005)14(19):2769-2778.
