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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. Note: This description may include information from UniProtKB.
Protein type: Calcium-binding; Membrane protein, integral; Vesicle
Chromosomal Location of Human Ortholog: 2p13.2
Cellular Component: cytoplasmic vesicle membrane; early endosome; endocytic vesicle; endosome; late endosome; microtubule organizing center; plasma membrane; sarcolemma; T-tubule
Molecular Function: calcium ion binding; calcium-dependent phospholipid binding; phospholipid binding; protein binding
Biological Process: muscle contraction
Disease: Miyoshi Muscular Dystrophy 1; Muscular Dystrophy, Limb-girdle, Type 2b; Myopathy, Distal, With Anterior Tibial Onset
Reference #:  O75923 (UniProtKB)
Alt. Names/Synonyms: DYSF; Dysferlin; dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive); dystrophy-associated fer-1-like 1; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1; FER1L1; FLJ00175; FLJ90168; LGMD2B
Gene Symbols: DYSF
Molecular weight: 237,295 Da
Basal Isoelectric point: 5.44  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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