|Other Names||Dystrobrevin alpha, DTN-A, Alpha-dystrobrevin, Dystrophin-related protein 3, DTNA, DRP3|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.|
|Cellular Location||Cytoplasm. Cell junction, synapse. Cell membrane. Note=In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane.|
|Tissue Location||Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle|
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The protein encoded by this gene belongs to thedystrobrevin subfamily of the dystrophin family. This protein is acomponent of the dystrophin-associated protein complex (DPC), whichconsists of dystrophin and several integral and peripheral membraneproteins, including dystroglycans, sarcoglycans, syntrophins andalpha- and beta-dystrobrevin. The DPC localizes to the sarcolemmaand its disruption is associated with various forms of musculardystrophy. Mutations in this gene are associated with leftventricular noncompaction with congenital heart defects. Multiplealternatively spliced transcript variants encoding differentisoforms have been identified for this gene.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Bohm, S.V., et al. BMC Biol. 7, 85 (2009) :Nakamori, M., et al. Neurology 70(9):677-685(2008)Lamesch, P., et al. Genomics 89(3):307-315(2007)Lim, J., et al. Cell 125(4):801-814(2006)
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