Reactivities: | Human |
Presku: | AAP64117 |
Size: | 100ug |
Weight: | 55kDa |
Gene: | 9499 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | LGMD1; LGMD1A; TTID |