Reactivities: | Human |
Presku: | AAP60946 |
Size: | 100ug |
Weight: | 93kDa |
Gene: | 825 |
Format: | Lyophilized powder |
Target: | Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. |
Alternative names: | CANP3; CANPL3; LGMD2; LGMD2A; MGC10767; MGC11121; MGC14344; MGC4403; nCL-1; p94 |