Calpain-related diseases.
Calpains are calcium-modulated proteases which respond to Ca2+ signals by removing limited portions of protein substrates, thereby irreversibly modifying their function(s). Members of this protease family are present in a variety of organisms ranging from mammals to plants; some of them are ubiquitously expressed, while others are tissue specific. Although calpains are apparently involved in a multitude of physiological and pathological events, their functions are still poorly understood. In two cases, however, the alteration of a member of the calpain family has been clearly identified as being responsible for a human disease: the loss of function of calpain 3 causes limb girdle muscular dystrophy type 2A, and mutations in the gene coding for calpain 10 have been shown to correlate with non-insulin-dependent diabetes.
Branca
Donata
D
Dipartimento di Chimica Biologica, Università di Padova and Venetian Institute of Molecular Medicine, Viale G. Colombo 3, 35121 Padua, Italy. donata.branca@unipd.it
D002154:Calpain / Q000737:chemistry / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation
D007527:Isoenzymes; D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain; C415197:calpain 10