基因名称(Gene Name)
C3orf32 FLS485
免疫原
Synthesized peptide derived from human CC032 AA range: 273-323
特异性
This antibody detects endogenous levels of CC032 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.30% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
Uncharacterized protein C3orf32
背景
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],
功能
catalytic activity:Broad endopeptidase activity.,disease:Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]. 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.,enzyme regulation:Activated by micromolar concentrations of calcium and inhibited by calpastatin.,function:Calcium-regulated non-lysosomal thiol-protease.,online information:Calpain-3 mutations in LGMD2A,similarity:Belongs to the peptidase C2 family.,similarity:Contains 1 calpain catalytic domain.,similarity:Contains 4 EF-hand domains.,subunit:Interacts with TTN/titin.,tissue specificity:Iso
