Entrez gene ID | | 826 |
Official gene symbol | | CAPNS1 |
Full name | | calpain, small subunit 1 |
Aliases | | ,30K,CALPAIN4,CANP,CANPS,CAPN4,CDPS,CSS1, |
Gene summary | | Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.12 |
Gene position | | 36630918 - 36641255 Map Viewer |
Gene orientation | | plus |
Gene size | | 10338 bp |
Gene sequence |
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OMIM ID | | 114170 |
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