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myot

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Official Full Name
myotilin
Background
This gene encodes 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.[provided by RefSeq, Oct 2008]
Synonyms
MYOT; myotilin; MFM3; TTID; TTOD; LGMD1; LGMD1A; 57 kDa cytoskeletal protein; myofibrillar titin-like Ig domains protein; titin immunoglobulin domain protein (myotilin); LGMD1, LGMD1A, limb girdle muscular dystrophy 1A (autosomal dominant) , titin immunoglobulin domain protein (myotilin) , TTID; TTID, LGMD1, LGMD1A

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