Human Calpain 3 (CAPN3) ELISA Kit | CAPN3 elisa kit
Human Calpain 3 (CAPN3) ELISA Kit
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: Motility/polarity/chemotaxis; EC 3.4.22.54; Calcium-binding; Protease; Cell development/differentiation
Chromosomal Location of Human Ortholog: 15q15.1
Cellular Component: protein complex; myofibril; cytoplasm; T-tubule; plasma membrane; intracellular; cytosol; nucleus; Z disc
Molecular Function: peptidase activity; protein binding; sodium ion binding; signal transducer activity; structural constituent of muscle; titin binding; calcium-dependent cysteine-type endopeptidase activity; protein complex scaffold; calcium ion binding; catalytic activity; ligase regulator activity; cysteine-type peptidase activity
Biological Process: muscle development; response to muscle activity; positive regulation of proteolysis; apoptosis; 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; response to calcium ion; regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of transcription, DNA-dependent; negative regulation of apoptosis
Disease: Muscular Dystrophy, Limb-girdle, Type 2a
Research Articles on CAPN3
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Product Notes
The Human CAPN3 capn3 (Catalog #AAA7223745) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7223745 ELISA Kit recognizes Human CAPN3. It is sometimes possible for the material contained within the vial of "Calpain 3 (CAPN3), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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