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 |