DYSF Antibody – Rabbit Polyclonal

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]

Function: Key calcium ion sensor involved in the Ca2+-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

By similarity.

Subunit structure: Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca2+- and injury state-dependent. Interacts with ANXA2; the interaction is Ca2+- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation

By similarity. Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca2+-independent. Interacts with AHNAK2; the interaction is direct and Ca2+-independent. Ref.15 Ref.18 Ref.20

Subcellular location: Cell membrane › sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein

By similarity. Note: 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 Ca2+-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

By similarity. Ref.10 Ref.12 Ref.13 Ref.18 Ref.19 Ref.20 Ref.21

Tissue specificity: Expressed 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. Ref.2 Ref.10 Ref.15 Ref.16 Ref.17 Ref.19 Ref.20 Ref.21

Developmental stage: Expression in limb tissue from 5-6 weeks embryos; persists throughout development. Ref.10

Domain: The C2 domain 1 associates with lipid membranes in a calcium-dependent manner.

Involvement in disease: Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.13 Ref.24 Ref.27 Ref.29 Ref.32 Ref.34 Ref.35 Ref.36 Ref.38 Ref.39 Ref.40Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.13 Ref.16 Ref.23 Ref.24 Ref.25 Ref.26 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.34 Ref.38 Ref.39 Ref.40Distal 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.Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities: Belongs to the ferlin family.Contains 5 C2 domains.

Sequence caution: The sequence BAG51981.1 differs from that shown. Reason: Erroneous initiation. The sequence CAA07603.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAA07603.1 differs from that shown. Reason: Frameshift at position 1972.