CAPN3, Official Symbol CAPN3provided by HGNC Official Full Name calpain 3provided by HGNC Primary source HGNC:HGNC:1480 See related Ensembl:ENSG00000092529 MIM:114240; AllianceGenome:HGNC:1480 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A; LGMDD4; LGMDR1 Summary 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] Expression Broad expression in bone marrow (RPKM 19.1), kidney (RPKM 13.9) and 24 other tissues See more Orthologs mouse all