Английская Википедия:Calpain-3

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Шаблон:Infobox gene Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.[1][2]

Function

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.[3]

In melanocytic cells CAPN3 gene expression may be regulated by MITF.[4]

Interactions

CAPN3 has been shown to interact with Titin.[5][6]

References

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Further reading

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External links

Шаблон:Cysteine proteases