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FLASH GENE

Symbol

PSEN2

contributors: mct - updated : 13-06-2017

HGNC name	presenilin 2 (Alzheimer disease 4)
HGNC id	9509

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AD4 , CMD1V

related resource

Alzheimer Disease Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in dilated cardiomyopathy, mild form, associated or not to AD constitutional     --over   in PS2 level augment the efficacy of Ca2+ transfer from the ER to the mitochondria

Susceptibility

to Alzheimer disease, sporadic and familial cases

Variant & Polymorphism other	association with a PSEN2 splice variant, lacking exon 5 in Alzheimer disease

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer an increase in ER–mitochondria tethering may mitigate the energetic defect linked to partial ER Ca2+ depletion caused by PSEN2 mutants, thus contributing to the milder phenotype of Azheimer disease cases linked to PSEN2 mutations

ANIMAL & CELL MODELS