DYSF

Gene Symbol	DYSF
Entrez Gene	8291
Alt Symbol	FER1L1, LGMD2B, MMD1
Species	Human
Gene Type	protein-coding
Description	dysferlin
Other Description	dystrophy-associated fer-1-like 1|fer-1-like family member 1|fer-1-like protein 1|limb girdle muscular dystrophy 2B (autosomal recessive)
Swissprots	B1PZ81 B1PZ80 B1PZ72 Q9UEN7 B1PZ79 B1PZ78 B1PZ77 Q53TD2 A0FK00 B1PZ70 Q53QY3 B3KQB9 O75923 B1PZ75 Q09EX5 B1PZ71 Q8TEL8 Q0H395 O75696 B1PZ73 B1PZ76 B1PZ74
Accessions	AAY14954 AAY24199 ABI75150 ABK20181 ADQ57464 CAA07800 CAD92859 EAW99763 EAW99764 EAW99765 O75923 AF075575 AAC63519 AI128455 AI192657 AI739271 AK074104 BAB84930 AK074442 BAB85086 AK074649 BAG51981 AK295004 BAH11947 AK303364 BAH13950 AK310739 BC038246 BC171803 BC172229 AAI72229 DB292971 DQ267935 ABB89736 EU515155 ACB12752 EU515156 ACB12753 EU515157 ACB12754 EU515158 ACB12755 EU515159 ACB12756 EU515160 ACB12757 EU515161 ACB12758 EU515162 ACB12759 EU515163 ACB12760 EU515164 ACB12761 EU515165 ACB12762 EU515166 ACB12763 XM_005264584 XP_005264641 XM_005264585 XP_005264642 NM_001130455 NP_001123927 NM_001130976 NP_001124448 NM_001130977 NP_001124449 NM_001130978 NP_001124450 NM_001130979 NP_001124451 NM_001130980 NP_001124452 NM_001130981 NP_001124453 NM_001130982 NP_001124454 NM_001130983 NP_001124455 NM_001130984 NP_001124456 NM_001130985 NP_001124457 NM_001130986 NP_001124458 NM_001130987 NP_001124459 NM_003494 NP_003485
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). {ECO:0000250}.
Subcellular Location	Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. 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). {ECO:0
Tissue Specificity	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. {ECO:0000269|PubMed:10196375, ECO:0000269|PubMed:11532985, ECO:0000269|PubMed:11959863, ECO:0000269|PubMed:15318348, ECO:0000269|PubMed:16896923, ECO:0000269|PubMed:17185750, ECO:0000269|PubMed:17363620, ECO:0000269|PubMed:17554076, ECO:0000269|PubMed:24239457}.

• Antibodies
• Assays/Kits
• Proteins/Peptides
• siRNAs/Functional Genomics
• cDNA Clones
• Cell/Tissue/Blood Products

dysferlin (C-11) - sc-398905 from Santa Cruz Biotechnology Prices $279.00 Sizes 200 µg/ml Host Mouse Clonality Monoclonal

dysferlin (C-19) - sc-16635 from Santa Cruz Biotechnology Prices $279.00 Sizes 200 µg/ml Host Goat Clonality Polyclonal

dysferlin (E-20) - sc-16634 from Santa Cruz Biotechnology Prices $279.00 Sizes 200 µg/ml Host Goat Clonality Polyclonal

dysferlin (H-82) - sc-367131 from Santa Cruz Biotechnology Prices $279.00 Sizes 200 µg/ml Host Rabbit Clonality Polyclonal

Anti-Dysferlin antibody - ab85802 from Abcam Prices $376.00 Sizes 100 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin antibody - ab52242 from Abcam Prices $376.00 Sizes 100 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin antibody [JAI-1-49-3] - ab124684 from Abcam Prices $401.00 Sizes 100 µl Host Rabbit Clonality Monoclonal Clone JAI-1-49-3

Anti-Dysferlin antibody [JAI-1-49-3] (Alexa Fluor® 488) - ab179640 from Abcam Prices $425.00 Sizes 100 µl Host Rabbit Clonality Monoclonal Clone JAI-1-49-3

Anti-Dysferlin antibody, prediluted - ab15109 from Abcam Prices $376.00 Sizes 7 ml Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (aa1999-2016) - LS-C22977 from LifeSpan Bioscience Prices $395.00 Sizes 500 µl Host Mouse Clonality Monoclonal

Anti-Dysferlin Antibody (C-Terminus) - LS-C65094 from LifeSpan Bioscience Prices $530.00 Sizes 500 µl Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (C-Terminus) - LS-C65093 from LifeSpan Bioscience Prices $485.00 Sizes 7 ml Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (C-Terminus) - LS-C188973 from LifeSpan Bioscience Prices $425.00 Sizes 50 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (aa349-366, clone Ham3/17B2) - LS-C189525 from LifeSpan Bioscience Prices $620.00 Sizes 1 ml Host Mouse Clonality Monoclonal Clone Ham3/17B2

Anti-Dysferlin Antibody (aa1999-2016, clone Ham1/7B6) - LS-C189524 from LifeSpan Bioscience Prices $665.00 Sizes 1 ml Host Mouse Clonality Monoclonal Clone Ham1/7B6

Anti-Dysferlin Antibody (aa1981-2030) - LS-C118434 from LifeSpan Bioscience Prices $315.00 Sizes 100 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (C-Terminus) IHC-plus™ - LS-B5217 from LifeSpan Bioscience Prices $395.00 Sizes 250 µl Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (aa215-264) - LS-C111037 from LifeSpan Bioscience Prices $365.00 Sizes 50 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (aa1296-1345) - LS-C111038 from LifeSpan Bioscience Prices $365.00 Sizes 50 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (clone Ham1/7B6) IHC-plus™ - LS-B5162 from LifeSpan Bioscience Prices $395.00 Sizes 125 µl Host Mouse Clonality Monoclonal Clone Ham1/7B6

Anti-Dysferlin Antibody (aa1584-1633) - LS-C111039 from LifeSpan Bioscience Prices $365.00 Sizes 50 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (Pro2013) - LS-C175994 from LifeSpan Bioscience Prices $345.00 Sizes 100 µg Host Rabbit Clonality Polyclonal

Anti-Dysferlin Antibody (aa2004-2021) IHC-plus™ - LS-B802 from LifeSpan Bioscience Prices $395.00 Sizes 50 µg Host Rabbit Clonality Polyclonal

Dysferlin Antibody - NB120-15108 from Novus Biologicals Prices $329.00 Sizes 500 µl Host Rabbit Clonality Polyclonal

Dysferlin Antibody - Pre-diluted - NB120-15109 from Novus Biologicals Prices $279.00 Sizes 7 ml Host Rabbit Clonality Polyclonal

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