Synonyms:CANP3, CANPL3, CAPN3, ENTREZ:825, HGNC:1480, LGMD2, LGMD2A, LGMDD4, LGMDR1, MIM:114240, NM_000070, NM_024344, NM_173087, NM_173088, NM_173089, NM_173090, NM_212465, NP_000061, NP_077320, NP_775110, NP_775111, NP_775112, NP_775113, NR_027911, NR_027912, calpain 3, nCL-1, p94
Omim:OMIM:114240
Id:ENSG00000092529
Hgnc:HGNC:1480
Description:calpain 3
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. [provided by RefSeq, Jul 2008]