SAB4200387

Anti-Dysferlin antibody produced in rabbit

~1.0 mg/mL, affinity isolated antibody

• Synonym(s): Anti-Dysferlin antibody produced in rabbit, Anti-Limb girdle muscular dystrophy 2B, Anti-DYSF
• UNSPSC Code: 12352203
• NACRES: NA.41

Properties

• biological source: rabbit
• conjugate: unconjugated
• antibody form: affinity isolated antibody
• antibody product type: primary antibodies
• clone: polyclonal
• form: buffered aqueous solution
• mol wt: ~250 kDa
• species reactivity: mouse, human
• enhanced validation: recombinant expression; Learn more about Antibody Enhanced Validation
• concentration: ~1.0 mg/mL
• technique(s): immunohistochemistry: 10-20 μg/mL using differentiated C2C12 myoblasts; immunoprecipitation (IP): 5-10 μg using HEK-293T cells over-expressing human dysferlin; western blot: 0.5-1.0 μg/mL using HEK-293T cells over-expressing human dysferlin
• UniProt accession no.: O75923
• shipped in: dry ice
• storage temp.: −20°C
• target post-translational modification: unmodified
• Gene Information: human ... DYSF(8291) ; mouse ... Dysf(26903)

Description

General description

Dysferlin is a transmembrane protein that belongs to the ferlin-1 family. It is mostly expressed in the early stages of human development. Dysferlin comprises a C-terminal transmembrane domain and a long N-terminal cytoplasmic region. Dysferlin gene is mapped to 2p13.2.

Specificity

Anti-Dysferlin specifically recognizes human and mouse dysferlin.

Immunogen

synthetic peptide corresponding to an internal sequence of human dysferlin (GeneID: 8291), conjugated to KLH.

Application

Anti-Dysferlin antibody produced in rabbit may be used in:

• immunoblotting
• immunoprecipitation
• immunofluorescence

Biochem/physiol Actions

Dysferlin localizes in the membrane and aids trafficking along with caveolin protein. The N-terminal region of dysferlin is essential for vesicular traffic and membrane fusion. Mutations in the dysferlin gene is implicated in the limb-girdle muscle dystrophy type 2B (LGMD2B), an autosomal recessive disorder and the related Miyoshi myopathy. It has been suggested to play a role in membrane fusion and repair processes, such as the ability to reseal the sarcolemma upon muscle injury. The integral membrane proteins caveolin-1 and -3 have been shown to regulate the endocytosis of dysferlin.4. Mutations in the caveolin-3 and 1 results in mistargeting and redistribution of dysferlin from the plasma membrane to the Golgi complex.

Physical form

solution in 0.01 M phos­phate buffered saline, pH 7.4, containing 15 mM sodium azide.

Storage and Stability

For continuous use, store at 2-8 °C for up to one month. For extended storage, freeze in working aliquots. Repeated freezing and thawing, or storage in “frost-free” freezers,is not recommended. If slight turbidity occurs upon prolongedstorage, clarify the solution by centrifugation before use. Working dilutions should be discarded if not used within 12 hours.

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

Safety Information

• Storage Class: 10 - Combustible liquids
• flash_point_f: Not applicable
• flash_point_c: Not applicable