PSEN1

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instance_of gptkb:DNA
gptkbp:associated_with gptkb:neurodegenerative_diseases
gptkbp:code presenilin-1 protein
gptkbp:diseases cognitive decline
neurodegeneration
gptkbp:function gamma-secretase activity
gptkbp:genetic_studies causes familial Alzheimer's disease
https://www.w3.org/2000/01/rdf-schema#label PSEN1
gptkbp:interacts_with gptkb:PSEN2
APP
gptkbp:is_expressed_in gptkb:Brain
gptkbp:located_in chromosome 14
gptkbp:variant A246 E
A431 E
E280 A
G206 A
I143 T
L286 P
L286 V
M146 L
N141 I
R278 I
gptkbp:bfsParent gptkb:Familial_Alzheimer's_Disease
gptkbp:bfsLayer 7