CAPN3 cDNA Clone – Calpain 3, (P94) (Human)

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]

CAPN3: Calcium-regulated non-lysosomal thiol-protease. Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A). LGMD2A is an autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset. Belongs to the peptidase C2 family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Protease; Motility/polarity/chemotaxis; Cell development/differentiation; EC 3.4.22.54; Calcium-binding

Chromosomal Location of Human Ortholog: 15q15.1

Cellular Component: cytoplasm; cytosol; intracellular; myofibril; nucleus; plasma membrane; protein complex; T-tubule; Z disc

Molecular Function: calcium ion binding; calcium-dependent cysteine-type endopeptidase activity; catalytic activity; cysteine-type peptidase activity; ligase regulator activity; peptidase activity; protein binding; protein complex scaffold; signal transducer activity; sodium ion binding; structural constituent of muscle; titin binding

Biological Process: activation of NF-kappaB transcription factor; apoptosis; muscle development; muscle maintenance; myofibril assembly; negative regulation of apoptosis; negative regulation of protein sumoylation; negative regulation of transcription, DNA-dependent; positive regulation of proteolysis; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of satellite cell activation involved in skeletal muscle regeneration; positive regulation of transcription, DNA-dependent; protein complex assembly; proteolysis; regulation of catalytic activity; regulation of I-kappaB kinase/NF-kappaB cascade; response to calcium ion; response to muscle activity; sarcomere organization

Disease: Muscular Dystrophy, Limb-girdle, Type 2a