Species Human Entrez 825 | Human Mouse Ensembl ENSG00000092529 | |
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Aliases CAPN3, CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94, calpain 3 External IDs MGI: 107437 HomoloGene: 52 GeneCards: CAPN3 | ||
Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.
Contents
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.
In melanocytic cells CAPN3 gene expression may be regulated by MITF.
Interactions
CAPN3 has been shown to interact with Titin.
References
CAPN3 Wikipedia(Text) CC BY-SA