Myotilin (MYOT)

Myotilin is a muscle-specific structural protein encoded by the MYOT gene, predominantly localized at the Z-discs of sarcomeres in striated muscles (skeletal and cardiac)[1][4][7][8]. It contains two immunoglobulin (Ig)-like domains and a unique serine-rich N-terminal region. Myotilin binds directly to alpha-actinin, actin, filamin C, and other Z-disc proteins, functioning as a scaffold to stabilize actin filaments and maintain structural integrity and alignment within muscle fibers[2][4][7]. Mutations in MYOT can cause inherited muscular disorders such as limb-girdle muscular dystrophy type 1A (LGMD1A) and myofibrillar myopathy, commonly via protein aggregation and disruption of normal sarcomere assembly[1][3][5][8]. Although myotilin is not considered a classical therapeutic target (such as a receptor, transporter, enzyme, or transcription factor), genetic modulation (e.g., RNAi-mediated knockdown) is under investigation as a strategy to treat gain-of-function myotilin-driven myopathies[6].

Other names

TTID57 kDa cytoskeletal proteinMyofibrillar titin-like Ig domains proteinTitin immunoglobulin domain proteinLimb-girdle muscular dystrophy 1A proteinLGMD1LGMD1AMFM3TTODMYOTI_HUMANMyotilin, 57 kDa cytoskeletal proteinTitin immunoglobulin domain protein (myotilin)