Dysferlin Antibody – Mouse Monoclonal

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 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). 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: Vesicle; Membrane protein, integral; Calcium-binding

Chromosomal Location of Human Ortholog: 2p13.3

Cellular Component: cytoplasmic vesicle membrane; lamellipodium; endocytic vesicle; late endosome; T-tubule; early endosome; integral to membrane; plasma 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; Miyoshi Muscular Dystrophy 1; Muscular Dystrophy, Limb-girdle, Type 2b