DYSF, Polyclonal Antibody

Anti -DYSF, CT (Dysferlin, Dystrophy-associated Fer-1-like Protein, Fer-1-like Protein 1, FER1L1)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 2; NC_000002.11 (71680347..71913895). Location: 2p13.3

Polyclonal

Rabbit

Recognizes human DYSF.

Affinity Purified
Purified by immunoaffinity chromatography.

Supplied as a liquid in PBS, pH 7.4, 0.2% BSA, 0.05% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-DYSF antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Dysferlin is the protein product of the 2p13 gene that is defective in patients with Limb-Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). Dysferlin is normally localized to the muscle plasma membrane. In patients with LGMD2B and MM, immunoreactivity to dysferlin is severely reduced or lost, depending on the type of mutation. This antibody is used for the characterization of LGMD2B and MM.

Antibodies; Abs to Membrane Proteins

Western Blot (WB), Immunohistochemistry (IHC)

Suitable for use in Western Blot and Immunohistochemistry.
Dilution: Western Blot: 1ug/ml
Immunohistochemistry (Formalin fixed paraffin embedded): 10ug/ml

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dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

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Dysferlin

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DYSF_HUMAN

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

DYSF: Key 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. Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B). 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 1 (MMD1). 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 *****hood. 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). 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. Belongs to the ferlin family. 15 isoforms of the human protein are produced by alternative splicing.

Protein type: Calcium-binding; Vesicle; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p13.3

Cellular Component: cytoplasmic vesicle membrane; endocytic vesicle; lamellipodium; late endosome; early endosome; T-tubule; plasma membrane; integral to membrane; endosome; sarcolemma

Molecular Function: protein binding; calcium-dependent phospholipid binding; phospholipid binding; calcium ion binding

Biological Process: vesicle fusion; plasma membrane repair

Disease: Myopathy, Distal, With Anterior Tibial Onset; Muscular Dystrophy, Limb-girdle, Type 2b; Miyoshi Muscular Dystrophy 1

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