calpain-3

calpain-3

An intracellular, calcium-dependent, tissue-specific major cysteine protease encoded by CAPN3 on chromosome 15q15.1, the function of which is as yet not fully understood; it specifically binds to titin. 
Abnormal calpain-3 mutations have been linked to limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600].
References in periodicals archive ?
Calpain-3 is probably located in the main part of the muscle cell, and myotilin and telethonin are located in the part of the muscle cell that allows it to contract and relax.
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.