Product nameAnti-Dysferlin antibody
See all Dysferlin primary antibodies
DescriptionRabbit polyclonal to Dysferlin
Tested applicationsSuitable for: WB, IHC-P, ICC/IFmore details
Species reactivityReacts with: Dog, Human
Predicted to work with: Mouse
Synthetic peptide within Human Dysferlin aa 1950-2050 (C terminal). The exact sequence is proprietary.
Database link: O75923
- Skeletal muscle.
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage bufferpH: 7.40
Preservative: 0.1% Sodium azide
Constituents: 0.0268% PBS, 1% BSA
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab15108 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||Use a concentration of 1 µg/ml. Predicted molecular weight: 231 kDa.|
|ICC/IF||Use at an assay dependent concentration.|
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.
- Information by UniProt
- DMAT antibody
- DYSF antibody
- DYSF_HUMAN antibody
ab15108 staining Dysferlin in human skeletal muscle by Immunohistochemistry (FFPE-sections).
Anti-Dysferlin antibody (ab15108) at 1 µg/ml + Human skeletal muscle tissue lysate - total protein (ab29330) at 10 µg
Goat polyclonal to Rabbit IgG - H&L - Pre-Adsorbed (HRP) at 1/3000 dilution
Predicted band size: 231 kDa
Observed band size: 231 kDa
Additional bands at: 240 kDa (possible post-translational modification)
This product has been referenced in:
- Whish S et al. The inner CSF-brain barrier: developmentally controlled access to the brain via intercellular junctions. Front Neurosci 9:16 (2015). IHC . Read more (PubMed: 25729345) »
- Guo LT et al. Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle. Neuromuscul Disord : (2010). WB ; Human, Mouse, Dog . Read more (PubMed: 20817457) »