Entrez gene ID | | 9499 |
Official gene symbol | | MYOT |
Full name | | myotilin |
Aliases | | ,LGMD1,LGMD1A,TTID, |
Gene 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. |
Location | | Chromosome: 5 Locus: 5q31 |
Gene position | | 137203545 - 137223540 Map Viewer |
Gene orientation | | plus |
Gene size | | 19996 bp |
Gene sequence |
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OMIM ID | | 604103 |
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