DYSF (Human) Cell-Based ELISA Kit
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Specification
Product Description
DYSF (Human) Cell-Based ELISA Kit is an indirect enzyme-linked immunoassay for qualitative determination of DYSF expression in cultured cells.
Suitable Sample
Attached Cell, Loosely Attached Cell, Suspension Cell
Label
HRP-conjugated
Detection Method
Colorimetric
Assay Type
Qualitative
Reactivity
Human, Mouse
Regulation Status
For research use only (RUO)
Storage Instruction
Store the kit at 4°C.
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Applications
Qualitative
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Gene Info — DYSF
Entrez GeneID
8291Protein Accession#
O75923Gene 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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