GeneID: 439
Names
| Common Name: | CAPN1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 11 (NC_000011.10) | Locus: | NG_052817.1 (CAPN1) |
| HUGO Symbol: | CAPN1 | Full Name: | calpain 1 |
| Exons: | 22 | Introns: | 21 |
Description:
Calpain (calcium-dependent protease) is an intracellular protease that requires calcium for its catalytic activity. Two isozymes, calpain I (mu-calpain) and calpain II (m-calpain), with different calcium requirements, have been identified, both composed of large and small catalytic units. The isozymes share an identical S subunit (CAPNS1), with the differences arising from the L subunits, L1 (CAPN1) and L2 (CAPN2). Calpains are usually localized to the cytosol and within mitochondria, and are involved in a broad range of cellular functions. They are implicated in a number of disease processes of the brain, eyes, heart, lungs, pancreas, kidneys, vascular system and skeletal muscle. Sequence variation in CAPN1 associated with disease severity in β-thalassaemia/HbE in spite of inconsistent reports of statistical significance.
Synonyms: CANP , muCL , CANP1 , SPG76 , CANPL1 , muCANP
Comments:
N/A
Number of entries/variants: 1
Sequence Viewer
Publications / Origin
- Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
- Potz BA, Abid MR, Sellke FW, Role of Calpain in Pathogenesis of Human Disease Processes., J Nat Sci, 2(9), 0, 2016 PubMed