84-2326-18　［取扱停止］Dysferlin (Dysferlin, Dystrophy-Associated fer-1-like Protein, Fer-1-like Protein 1, Dysferlin, DYSF, FER1L1, FLJ00175, LGMD2B) 50ul　222266

特徴

• Dysferlin is a muscle-specific protein that is essential for normal muscle function and development.
• Mutations in the human dysferlin gene, DYSF, which maps to chromosome 2p13.3-p13.1, are associated with limb girdle muscular dystrophy-2B (LGMD-2B) and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM).
• Dysferlin, a protein with a molecular mass of ~230 kDa, localizes to the muscle fiber membrane, but is absent in MM and LGMD-2B muscle.
• Dysferlin is detected in 5-6 week embryos, when limbs begin to form regional differentiation.
• Although it is not essential for initial myogenesis, dysferlin appears to be critical for sustained normal function in mature muscle.
• It has been suggested that the absence of dysferlin during development gives rise to the disease phenotype in adulthood.
• Identical mutations in the dysferlin gene can produce more than one myopathy phenotype, indicating that additional genes and/or other factors are also nvolved in the clinical phenotype.
• The DYSF gene has no homology to any other known mammalian gene, but the protein product is related to the spermatogenesis factor fer-1 of Caenorhabditis elegans.
• Applications:Suitable for use in Immunofluorescence and Western Blot.
• Other applications not tested.
• Recommended Dilutions:Western Blot: 1:500-1:1000Immunofluorescence: 1:50-1:200Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.