Gene Symbol | CAST |
Entrez Gene ID | 831 |
Full Name | calpastatin |
Synonyms | BS-17,PLACK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]. |
Disorder MIM: | |
Disorder Html: | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3) |