Details for Gene CAPN3

GENE NAME CAPN3
CHROMOSOME 15
ENSEMBL ID ENSG00000092529
ENTREZ ID 825
UNIPROT ACCESSION NUMBER P20807
GO MOLECULAR FUNCTION protein binding; hydrolase activity; peptidase activity; calcium ion binding; cysteine-type peptidase activity; calcium-dependent cysteine-type endopeptidase activity; metal ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1474244; R-HSA-1474228
2 combinations linked to CAPN3 OLI569; OLI415
3 variants linked to CAPN3 CAPN3:c.1663G>A, p.Val555Ile; CAPN3:c.550delA, p.Thr184fs; CAPN3:c.1696G>A, p.Glu566Lys
1 disease linked to CAPN3 Limb-girdle muscular dystrophy

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