Gene Symbol | MYOT |
Entrez Gene ID | 9499 |
Full Name | myotilin |
Synonyms | LGMD1,LGMD1A,MFM3,TTID,TTOD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, limb-girdle, type 1A, 159000 (3); Myopathy, myofibrillar, 3, 609200 (3); Myopathy, spheroid body, 182920 (3) |