Muscleblind-like Protein 1 (MBNL1)

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£544.00

SKU:: 031391
Purity:: Purified by affinity chromatography.
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Mouse
Immunogen:: Full-length recombinant protein corresponding to human muscleblind-like 1 protein expressed in E. coli
Clone:: 1H1
Format:: Supplied as a liquid in PBS, 5mM sodium azide, 50% glycerol.
Extra Details:: A protein named "muscleblind" was originally isolated following studies of Drosophila, since inactivation of the muscleblind gene in this species resulted in defects the development of both muscles and the visual system (1). Subsequently gene cloning identified three mammalian muscleblind like protein homologues were discovered, MBNL1 (a.k.a. MBNL), MBNL2 (a.k.a. MBLL) and MBNL3 (a.k.a. MBXL/MBLX/CHCR). The MBNL1 protein was also discovered since it binds specifically to the aberrant polynucleotide repeats derived from the myotonin gene which are causative of myotonic dystrophy type 1 (DM1). This is one of the diseases in which the copy number of 3-6 base DNA repeats increases beyond the normal level and cause clinical problems (2-4). In the case of DM1 the 3' UTR of the myotonin gene normally has 5-37 copies of a CTG trinucleotide repeat which in the disease state is increased to 50-5000 repeats. These repeated sequences in the mRNA bind to and sequester the MBNL1 protein. The myotonin gene codes for a serine/threonine protein kinase predominantly expressed in muscle, and which is related in sequence to other protein kinases regulated by small G proteins. The three muscle blind-like proteins have differing expression patterns in mice, with MBNL1 being expressed widely, with particularly high levels in heart, muscle and liver (5). The MBNL1 protein localizes on nuclear foci in cells derived from DM1 patients along with the repeat containing mRNA (6,7). Knockout of MBNL1 in mice leads to muscle and eye deficits similar to those seen in Drosophila (8). The mice also showed RNA splicing abnormalities that are characteristic of the DM1 disease process, and it is thought that MBNL1 therefore has a role in the regulation of alternate mRNA splicing. Applications: Suitable for use in Immunocytochemistry/Immunofluorescence and Western Blot. Not recommended for use in Immunohistochemistry. Other applications not tested. Recommended Dilution: Immunocytochemistry/Immunofluorescence: 1:1000 Western Blot: 1:1000-1:2000 Optimal 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.

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