Details for Gene CAPN1

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

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