Product Name
Dysferlin, Polyclonal Antibody
Full Product Name
Dysferlin Polyclonal Antibody
Product Gene Name
anti-DYSF antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for O75923
Other Notes
Small volumes of anti-DYSF antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for DYSF. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001123927.1
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NCBI GenBank Nucleotide #
NM_001130455.1
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UniProt Primary Accession #
O75923
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UniProt Secondary Accession #
A0FK00; B1PZ70; B1PZ71; B1PZ72; B1PZ73; B1PZ74; B1PZ75; B1PZ76; B1PZ77; B1PZ78; B1PZ79[Other Products]
UniProt Related Accession #
O75923[Other Products]
Molecular Weight
222,315 Da[Similar Products]
NCBI Official Full Name
dysferlin isoform 2
NCBI Official Synonym Full Names
dysferlin
NCBI Official Symbol
DYSF [Similar Products]
NCBI Official Synonym Symbols
MMD1; FER1L1; LGMD2B
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NCBI Protein Information
dysferlin
UniProt Protein Name
Dysferlin
UniProt Synonym Protein Names
Dystrophy-associated fer-1-like protein; Fer-1-like protein 1
UniProt Gene Name
DYSF [Similar Products]
UniProt Synonym Gene Names
FER1L1 [Similar Products]
NCBI Summary for DYSF
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]
UniProt Comments for DYSF
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 ().
Research Articles on DYSF
1. Immunofluorescence demonstrated that the percentage of complex I- and complex IV-deficient fibres was higher in patients with DYSF mutations than in age-matched controls. No clonally expanded mtDNA deletions were detected using long-range PCR in any of the analysed muscle fibres. Complex I and complex IV deficiency is higher in patients than age matched controls but patients do not have rearrangements of the mtDNA.
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