CAPN3 Summary

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. [provided by RefSeq, Jul 2008]

CAPN3 Details

Gene Symbol : CAPN3

Gene Name : Calpain 3

Chromosome : CHR 15: 423,594,99-424,123,16

Locus : 15q15.1

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USP25 Summary

Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]

USP25 Details

Gene Symbol : USP25

Gene Name : Ubiquitin specific peptidase 25

Chromosome : CHR 21: 157,299,46-158,800,71

Locus : 21q21.1

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