Details for Gene PSEN2

GENE NAME PSEN2
CHROMOSOME 1
ENSEMBL ID ENSG00000143801
ENTREZ ID 5664
UNIPROT ACCESSION NUMBER P49810
GO MOLECULAR FUNCTION protein binding; peptidase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-9013700; R-HSA-2894862; R-HSA-9012852; R-HSA-2644603; R-HSA-2894858; hsa05010; R-HSA-9006934; R-HSA-157118; R-HSA-2122948; R-HSA-204998; R-HSA-3928665; R-HSA-193704; R-HSA-2644606; R-HSA-9017802; R-HSA-2979096; R-HSA-2644602; R-HSA-1643685; R-HSA-193692; hsa04722; R-HSA-9013694; R-HSA-1980145; R-HSA-9013507; R-HSA-9675108; R-HSA-422475; R-HSA-1266738; hsa04330; R-HSA-2682334; R-HSA-1236394; R-HSA-162582; R-HSA-1980143; hsa05022; R-HSA-1251985; R-HSA-205043; R-HSA-5663202; R-HSA-73887
1 combination linked to PSEN2 OLI657
1 variant linked to PSEN2 PSEN2:c.236T>C, p.Leu79Pro
1 disease linked to PSEN2 Amyotrophic lateral sclerosis

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