Rabbit anti-Human Calpain 3 (CAPN3) Polyclonal Antibody | anti-CAPN3 antibody
Biotin-Linked Polyclonal Antibody to Calpain 3 (CAPN3)
NCBI and Uniprot Product Information
NCBI 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]
Uniprot Description
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: Calcium-binding; Cell development/differentiation; EC 3.4.22.54; Motility/polarity/chemotaxis; Protease
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 activity; signal transducer activity; sodium ion binding; structural constituent of muscle; titin binding
Biological Process: apoptosis; muscle maintenance; muscle organ development; myofibril assembly; negative regulation of apoptosis; negative regulation of protein sumoylation; negative regulation of transcription, DNA-dependent; positive regulation of NF-kappaB transcription factor activity; 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-templated; protein complex assembly; proteolysis; regulation of catalytic activity; regulation of I-kappaB kinase/NF-kappaB cascade; regulation of myoblast differentiation; response to calcium ion; response to muscle activity; sarcomere organization; signal transduction
Disease: Muscular Dystrophy, Limb-girdle, Type 2a