|Application ||IHC-P, E|
|Dilution||ELISA (1:1000), IHC-P (20 µg/ml),|
|Other Names||Dysferlin, Dystrophy-associated fer-1-like protein, Fer-1-like protein 1, DYSF, FER1L1|
|Target/Specificity||Amino acids 2004 to 2021 of human DYSF|
|Reconstitution & Storage||Long term: -20°C; Short term: +4°C. Avoid repeat freeze-thaw cycles.|
|Precautions||Dysferlin Antibody (aa2004-2021) is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||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 (By similarity).|
|Cellular Location||Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane 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 Ca(2+)-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).|
|Tissue Location||Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas|
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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 (By similarity).
Liu J.,et al.Nat. Genet. 20:31-36(1998).
Pramono Z.A.D.,et al.Hum. Genet. 120:410-419(2006).
Pramono Z.A.,et al.Hum. Genet. 125:413-420(2009).
Hillier L.W.,et al.Nature 434:724-731(2005).
Mural R.J.,et al.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
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