CAPN3 Lysate – Tissue Lysate

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

Chromosomal Location of Human Ortholog: 15q15.1

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

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

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

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