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Calpain small subunit 1
from Wikipedia

Calpain small subunit 1
Identifiers
Aliases
External IDsGeneCards: [1]; OMA:- orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Calpain small subunit 1 (CSS1) is a protein that in humans is encoded by the CAPNS1 gene.[1][2][3]

Function

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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. The small regulatory subunit consists of an N-terminal domain, containing about 30% glycine residues and a C-terminal Ca-binding domain.[4] Two transcript variants encoding the same protein have been identified for this gene.[3]

Functions

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Myotonic dystrophy

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This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy.[3]

Biomarker

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'Elevated expression of CAPNS1 has been found to be associated with progression of various cancers such as hepatocellular and renal carcinoma. [5]

References

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Further reading

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