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MYOT / Myotilin is a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Gene Name: | myotilin |
Synonyms: | MYOT, 57 kDa cytoskeletal protein, LGMD1, LGMD1A, TTID, Myotilin |
Target Sequences: | NM_006790 NP_006781.1 Q9UBF9 |
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