Literature summary for 3.4.22.54 extracted from

Fanin, M.; Nascimbeni, A.C.; Angelini, C.
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations (2007), J. Med. Genet., 44, 38-43.

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
muscle	of normal and of patients with limb girdle muscular dystrophy. Screening of calpain-3 autolytic activity in limb girdle muscular dystrophy muscle. Missense mutations localized in calpain-3 domains II and III would impair its autolytic activity, possibly because of the charge variation in the residues involved in internal salt bridges. This would finally result in a reduced sensitivity to Ca2+-ions. The pathogenetic effect of these mutations may be understood in terms of impaired communications between protein interdomains	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
calpain-3	-	Homo sapiens

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Release 2023.1 (January 2023)