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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.
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Transporters
Predicted location
Membrane
Single cell type specificity
Cell type enhanced (Syncytiotrophoblasts, Oligodendrocytes, Endothelial cells, Excitatory neurons, Hepatic stellate cells, Adipocytes, Kupffer cells)
Immune cell specificity
Immune cell enriched (neutrophil)
Cell line specificity
Group enriched (hTERT-RPE1, HUVEC TERT2, LHCN-M2, RH-30, TIME)
Interaction
Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca(2+)- and injury state-dependent. Interacts with ANXA2; the interaction is Ca(2+)- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (By similarity). Interacts with RIPOR2; this interaction occurs during early myogenic differentiation (PubMed:24687993). Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca(2+)-independent. Interacts with AHNAK2; the interaction is direct and Ca(2+)-independent.
More Types Infomation
- Rabbit Anti-DYSF Recombinant Antibody (clone JF05-54) (MRO-0504-CN)
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- Species Reactivity: Human, Mouse
- Type: Rabbit IgG
- Application: WB, IF, IHC
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG3
- Application: WB, IP, IF, ELISA
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- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC, ICC
- Rabbit Anti-DYSF Polyclonal Antibody (MRO-1828-CN) (MRO-1828-CN)
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC, FC
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For Research Use Only. Not For Clinical Use.