靶标:
MYOT
产品别名:
LGMD1; LGMD1A; MFM3; TTID; TTOD; MYOT; myotilin; myotilin; myotilin; 57 kDa cytoskeletal protein; myofibrillar titin-like Ig domains protein; titin immunoglobulin domain protein (myotilin); 肌收缩蛋白MYOT;
背景信息:
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.