Anti-Dysferlin/DYSF Antibody Picoband® Fluoro488 Conjugated

Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. 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.

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) . Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.

1. Anderson, L. V. B., Davison, K., Moss, J. A., Young, C., Cullen, M. J., Walsh, J., Johnson, M. A., Bashir, R., Britton, S., Keers, S., Argov, Z., Mahjneh, I., Fougerousse, F., Beckmann, J. S., Bushby, K. M. D. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum. Molec. Genet. 8: 855-861, 1999. Note: Erratum: Hum. Molec. Genet. 8: 1141 only, 1999. 2. Aoki, M., Liu, J., Richard, I., Bashir, R., Britton, S., Keers, S. M., Oeltjen, J., Brown, H. E., Marchand, S., Bourg, N., Beley, C., McKenna-Yasek, D., and 13 others. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57: 271-278, 2001. 3. Bansal, D., Miyake, K., Vogel, S. S., Groh, S., Chen, C.-C., Williamson, R., McNeil, P. L., Campbell, K. P. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423: 168-172, 2003.