Full name: myotilin

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: LGMD1; LGMD1A; MFM3; TTID; TTOD

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]

Expression: Biased expression in prostate (RPKM 16.8), esophagus (RPKM 14.9) and 4 other tissues

Gene size: 19992bp

Exon count: 10