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.
Immunogen Information
Immunogen
Fusion protein of human MYOT
Swissprot
Q9UBF9
Synonyms
57 kDa cytoskeletal proteinLGMD 1LGMD1Myofibrillar titin like Ig domains proteinMyofibrillar titin-like Ig domains proteinMyotMYOTIMyotilinTitin immunoglobulin domain proteinTTIDTTID protein