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Literature summary for 3.4.22.54 extracted from

  • Pistoni, M.; Shiue, L.; Cline, M.S.; Bortolanza, S.; Neguembor, M.V.; Xynos, A.; Ares, M.; Gabellini, D.
    Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of facioscapulohumeral muscular dystrophy (FSHD) (2013), PLoS Genet., 9, e1003186.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.22.54

Organism

Organism UniProt Comment Textmining
Homo sapiens P20807
-
-
Mus musculus Q64691
-
-

Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
-
 Homo sapiens
-
skeletal muscle
-
 Mus musculus
-

Synonyms

Synonyms Comment Organism
calpain 3
-
 Homo sapiens
calpain 3
-
 Mus musculus
CAPN3
-
 Homo sapiens
CAPN3
-
 Mus musculus

Expression

Organism Comment Expression
Homo sapiens alternative splicing isoform of calpain 3 is increased in facioscapulohumeral muscular dystrophy patients up
Mus musculus alternative splicing isoform of calpain 3 is increased in FSHD region gene1 mice up

General Information

General Information Comment Organism
malfunction calpain 3 is mutated in limb girdle muscular dystrophy Homo sapiens
physiological function aberrant calpain 3 splicing contributes to the muscle differentiation defects of facioscapulohumeral muscular dystrophy patients Homo sapiens