GENE NAME | CAPN1 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000014216 |
ENTREZ ID | 823 |
UNIPROT ACCESSION NUMBER | P07384 |
GO MOLECULAR FUNCTION | protein binding; hydrolase activity; peptidase activity; cysteine-type peptidase activity; metal ion binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-6809371; hsa04141; hsa05010; R-HSA-1266738; hsa04218; R-HSA-1474228; R-HSA-6805567; R-HSA-8863678; R-HSA-1474244; R-HSA-6798695; hsa05022; R-HSA-168249; R-HSA-1643685; hsa05131; R-HSA-9645723; hsa04217; R-HSA-168256; R-HSA-8862803; hsa04210 |
1 combination linked to CAPN1 | OLI335 |
1 variant linked to CAPN1 | CAPN1:c.1037C>T, p.Thr346Ile |
1 disease linked to CAPN1 | Amyotrophic lateral sclerosis |