84-2182-50　［取扱停止］DMD (Duchenne Muscular Dystrophy Protein, Dystrophin, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272) 100ul　210490

特徴

• The dystrophin gene is the largest gene found in nature, measuring 2.4Mb.
• The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies.
• DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males.
• BMD is a milder allelic form.
• In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level.
• The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites.
• Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms.
• Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers.
• Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix.
• Applications:Suitable for use in Immunofluorescence, Western Blot.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:2000Immunofluorescence: 1:20-1:50Optimal 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.