|Other Names||Myotilin, 57 kDa cytoskeletal protein, Myofibrillar titin-like Ig domains protein, Titin immunoglobulin domain protein, MYOT, TTID|
|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||Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.|
|Cellular Location||Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904)|
|Tissue Location||Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.|
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This gene encodes a cystoskeletal protein which plays asignificant role in the stability of thin filaments during musclecontraction. This protein binds F-actin, crosslinks actinfilaments, and prevents latrunculin A-induced filament disassembly.Mutations in this gene have been associated with limb-girdlemuscular dystrophy and myofibrillar myopathies. Severalalternatively spliced transcript variants of this gene have beendescribed, but the full-length nature of some of these variants hasnot been determined.
Bailey, S.D., et al. Diabetes Care (2010) In press :Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Shalaby, S., et al. J. Neuropathol. Exp. Neurol. 68(6):701-707(2009)Heikkinen, O., et al. J. Biomol. NMR 44(2):107-112(2009)Claeys, K.G., et al. Acta Neuropathol. 117(3):293-307(2009)
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