Английская Википедия:Calpain small subunit 1

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Шаблон:Cs1 config Шаблон:Short description Шаблон:Infobox gene Calpain small subunit 1 (CSS1) is a protein that in humans is encoded by the CAPNS1 gene.[1][2][3]

Function

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

Myotonic dystrophy

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

Biomarker

'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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External links

Further reading

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Шаблон:Cysteine proteases


Шаблон:Gene-19-stub