Details for Gene SORL1

GENE NAME SORL1
CHROMOSOME 11
ENSEMBL ID None
ENTREZ ID ENSG00000137642
UNIPROT ACCESSION NUMBER Q92673
GO MOLECULAR FUNCTION ['amyloid-beta binding', 'small GTPase binding', 'neuropeptide binding', 'transmembrane signaling receptor activity', 'protein binding', 'low-density lipoprotein particle binding', 'low-density lipoprotein particle receptor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-392499; R-HSA-977225
2 combinations linked to SORL1 OLI1246; OLI1470
2 variants linked to SORL1 SORL1:c.352G>A, p.Val118Met; SORL1:c.2710C>T, p.Arg904Trp
3 diseases linked to SORL1 NON RARE IN EUROPE: Alzheimer disease; Progressive non-fluent aphasia; Corticobasal syndrome

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