DYSF monoclonal antibody, clone Ham1/7B6
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Specification
Product Description
Mouse monoclonal antibody raised against synthetic peptide of DYSF.
Immunogen
A synthetic peptide corresponding to amino acids 1999-2016 of human DYSF.
Host
Mouse
Reactivity
Dog, Hamster, Human, Mouse, Pig, Rabbit, Rat
Form
Lyophilized
Isotype
IgG1
Recommend Usage
Immunohistochemistry (Frozen sections) (1:20-1:40)
The optimal working dilution should be determined by the end user.Storage Buffer
Lyophilized from tissue culture supernatant (0.09% sodium azide)
Storage Instruction
Store at 4°C on dry atmosphere.
After reconstitution with steril distilled water, Store at 4°C for at least two months.
For long term storage store at -20°C or below.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Immunohistochemistry (Frozen sections)
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Gene Info — DYSF
Entrez GeneID
8291Gene Name
DYSF
Gene Alias
FER1L1, FLJ00175, FLJ90168, LGMD2B
Gene Description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Gene Ontology
HyperlinkGene Summary
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
Other Designations
dysferlin|dystrophy-associated fer-1-like 1
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Interactome
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Disease
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Publication Reference
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A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
Ricardo Santin, Igor Araujo Vieira, Jean Costa Nunes, Maria Luiza Benevides, Fernanda Quadros, Ana Carolina Brusius-Facchin, Gabriel Macedo, Ana Paula Santin Bertoni.
Acta Myologica 2021 Jun; 40(2):93.
Application：IHC-Fr, Human, Human muscle biopsy.
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A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
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