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Literature summary for 3.4.22.54 extracted from

  • Richard, I.; Roudaut, C.; Saenz, A.; Pogue, R.; et al.
    Calpainopathy - a survey of mutations and polymorphisms (1999), Am. J. Hum. Genet., 64, 1524-1540.
    View publication on PubMedView publication on EuropePMC
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens limb-girdle muscular dystrophy type 2A is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene. 97 distinct pathogenic calpain 3 mutations have been identified. The mutations are distributed along the entire length of the CAPN3 gene ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P20807
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Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
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 Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information limb-girdle muscular dystrophy type 2A is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene. 97 distinct pathogenic calpain 3 mutations have been identified. The mutations are distributed along the entire length of the CAPN3 gene Homo sapiens ?
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 ?