{"symbol":"CAPN3","synonyms":["LGMDR1","NCL-1","LGMD2","CANP3","CANPL3","LGMDD4","LGMD2A","P94"],"name":"calpain 3, (p94)","description":"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]","ncbiEntrezGeneId":825,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/825","proteins":[{"symbol":"CAN3_HUMAN","href":"/api/1.0/protein/CAN3_HUMAN"}],"hgncRootFamilies":[{"name":"EF-hand domain containing","href":"/api/1.0/gene_family/EF-hand+domain+containing"}]}