Anti-Dysferlin antibody [JAI-1-49-3] (ab124684)
- Product nameAnti-Dysferlin antibody [JAI-1-49-3]See all Dysferlin primary antibodies ...
- DescriptionRabbit monoclonal [JAI-1-49-3] to Dysferlin
- Tested applicationsWB, IHC-P, ICC more details
- Species reactivityReacts with: Mouse, Human
Does not react withRat
Synthetic peptide, corresponding to amino acids within Human Dysferlin (O75923).
- Positive control
- Human and Mouse skeletal muscle tissue.
- General notes
This antibody was made in collaboration with the Jain Foundation whose goal is to hasten EVERY avenue that may lead to the cure for LGMD2B/Miyoshi.
Produced under U.S. Patent No. 5,675,063.
This product is available conjugated to Alexa Fluor® 488 see ab179640.
- Storage instructionsShipped at 4°C. Upon delivery aliquot. Store at -20°C. Avoid freeze / thaw cycle.
- Dissociation constant (KD) KD = 7.20 x 10 -11 M Learn more about KD
- Storage bufferPBS 49%,Sodium azide 0.01%,Glycerol 50%,BSA 0.05%
- PurityTissue culture supernatant
- Clonality Monoclonal
- Clone numberJAI-1-49-3
- Research Areas
Our Abpromise guarantee covers the use of ab124684 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||WB: 1/1000 - 1/10000. Detects a band of approximately 280 kDa (predicted molecular weight: 237 kDa).|
|IHC-P||IHC-P: 1/50 - 1/100. Antigen retrieval is recommended.|
|ICC||ICC: 1/200 - 1/400.|
- FunctionKey calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress.
- Tissue specificityExpressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.
- Involvement in diseaseDefects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]. LGMD2B is an autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.
Defects in DYSF are the cause of Miyoshi muscular dystrophy type (MMD1) [MIM:254130]. MMD1 is a late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. Otherwise the phenotype overlaps with LGMD2B, especially in age at onset and creatine kinase elevation.
Defects in DYSF are the cause of distal myopathy with anterior tibial onset (DMAT) [MIM:606768]. Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive.
- Sequence similaritiesBelongs to the ferlin family.
Contains 5 C2 domains.
- Developmental stageExpression in limb tissue from 5-6 weeks embryos; persists throughout development.
- DomainThe C2 domain 1 associates with lipid membranes in a calcium-dependent manner.
- Cellular localizationCell membrane > sarcolemma. Cytoplasmic vesicle membrane. Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites.
- DMAT antibody
- DYSF antibody
- DYSF_HUMAN antibody
- Dysferlin antibody
- Dysferlin limb girdle muscular dystrophy 2B (autosomal recessive) antibody
- Dysferlin limb girdle muscular dystrophy 2B antibody
- Dystrophy associated fer 1 like 1 antibody
- Dystrophy associated fer 1 like protein antibody
- Dystrophy associated fer1 like 1 antibody
- Dystrophy associated fer1 like protein antibody
- Dystrophy-associated fer-1-like protein antibody
- Fer 1 like protein 1 antibody
- Fer-1-like protein 1 antibody
- Fer1 like protein 1 antibody
- FER1L1 antibody
- FLJ00175 antibody
- FLJ90168 antibody
- LGMD 2B antibody
- LGMD2B antibody
- Limb girdle muscular dystrophy 2B (autosomal recessive) antibody
- Limb girdle muscular dystrophy 2B antibody
- Miyoshi myopathy antibody
- MM antibody
- MMD1 antibody
Anti-Dysferlin antibody [JAI-1-49-3] images
All lanes : Anti-Dysferlin antibody [JAI-1-49-3] (ab124684) at 1/1000 dilution
Lane 1 : Human skeletal muscle tissue lysate (control)
Lane 2 : Human skeletal muscle tissue lysate (LGMD2B)
Lane 3 : Mouse skeletal muscle tissue lysate (wild-type mice)
Lane 4 : Mouse skeletal muscle tissue lysate (Dysf-/- transgenic mouse)
Lysates/proteins at 10 µg per lane.
Standard HRP labelled goat anti-rabbit at 1/2000 dilution
Predicted band size : 237 kDa
Observed band size : 280 kDa (why is the actual band size different from the predicted?)
ab124684, at 1/50 dilution, staining Dysferlin in paraffin-embedded Human skeletal muscle tissue, by Immunohistochemistry.
ab124684, at 1/200 dilution, staining Dysferlin in unfixed, frozen sections of Human skeletal muscle (control) by Immunofluorescence.
ab124684, at 1/200 dilution, staining Dysferlin in unfixed, frozen sections of Human skeletal muscle tissue (LGMD2B) by Immunofluorescence.
ab124684, at 1/200 dilution, staining Dysferlin in unfixed, frozen sections of Mouse skeletal muscle (wild-type mouse) by Immunofluorescence.
ab124684, at 1/200 dilution, staining Dysferlin in unfixed, frozen sections of Mouse skeletal muscle (Dysf-/- transgenic mouse) by Immunofluorescence.
Equilibrium disassociation constant (KD)
Learn more about KD
Click here to learn more about KD
References for Anti-Dysferlin antibody [JAI-1-49-3] (ab124684)
This product has been referenced in:
- Lek A et al. Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair. J Neurosci 33:5085-94 (2013). WB ; Human . Read more (PubMed: 23516275) »
- Azakir BA et al. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. J Biol Chem 287:10344-54 (2012). Read more (PubMed: 22318734) »