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 |