Immunogen | Humanventricularmyosin |
Epitope | ventricularheavychainalpha/beta |
Clone | F26.2D11 |
Host | Mouse |
Specificity | RecognizestheLMM(lightmeromyosin)fragmentofhumanventricularmyosinheavychain(typealpha/beta) |
Isotype | IgG2a |
SpeciesReactivity | |
AntibodyType | MonoclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | MYH7encodesthecardiacmusclebeta(orslow)isoformofmyosin.ChangesintherelativeabundanceofMYH7andMYH6(thealpha,orfast,isoformofcardiacmyosinheavychain)correlatewiththecontractilevelocityofcardiacmuscle.MutationsinMYH7areassociatedwithfamilialhypertrophiccardiomyopathy. |
GeneSymbol | - MYH7
- Myosin-7
- MYHCB
- MyHC-beta
- DKFZp451F047
- CMH1
- CMD1S
- MGC138378
- MPD1
- MGC138376
|
UniProtNumber | |
UniProtSummary | FUNCTION:SwissProt:P13533#Musclecontraction. SIZE:1939aminoacids;223690Da SUBUNIT:Musclemyosinisahexamericproteinthatconsistsof2heavychainsubunits(MHC),2alkalilightchainsubunits(MLC)and2regulatorylightchainsubunits(MLC-2). SUBCELLULARLOCATION:Cytoplasm,myofibril.Note=Thickfilamentsofthemyofibrils. DOMAIN:SwissProt:P13533Therodliketailsequenceishighlyrepetitive,showingcyclesofa28-residuerepeatpatterncomposedof4heptapeptides,characteristicforalpha-helicalcoiledcoils. DISEASE:SwissProt:P13533#DefectsinMYH6areacauseoffamilialhypertrophiccardiomyopathy(CMH)[MIM:192600].Familialhypertrophiccardiomyopathyisaheartdisordercharacterizedbyventricularhypertrophy,whichisusuallyasymmetricandofteninvolvestheinterventricularseptum.Theprevalenceofthediseaseinthegeneralpopulationis0.2%.FHCisclinicallyheterogeneous,withinter-andintrafamilialvariationsrangingfrombenigntomalignantformswithhighriskofcardiacfailureandsuddencardiacdeath.&DefectsinMYH6arethecauseofatrialseptaldefecttype3(ASD3)[MIM:160710].ASDisoneofthemostcommonformsofcongenitalheartmalformation.Itischaracterizedbyincompleteclosureofthewallbetweentheatria,resultinginbloodflowfromthelefttotherightatria. SIMILARITY:Contains1IQdomain.&Contains1myosinhead-likedomain. MISCELLANEOUS:Eachmyosinheavychaincanbesplitinto1lightmeromyosin(LMM)and1heavymeromyosin(HMM).Itcanlaterbesplitfurtherinto2globularsubfragments(S1)and1rod-shapedsubfragment(S2).&Thecardiacalphaisoformisa"fast"ATPasemyosin,whilethebetaisoformisa"slow"ATPase. |