PSEN1

Gene

presenilin 1

HGNCHGNC:9508 EnsemblENSG00000080815 NCBI Gene5663

Locus: gene with protein productLocation: 14q24.2

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Presenilin-1P49768

Protein · therapeutic target

Clinically validated target · 2 approved medicines against this target

Explore protein biology & therapeutics

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asAD3 · FAD · S182 · PS1 · PS-1 · PSNL1

View full nomenclature history (8)

Previous symbolsAD3

Alias symbolsFAD, S182, PS1, PS-1, PSNL1

Previous namesAlzheimer disease 3

Alias namesfamilial Alzheimer Disease

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Pick Disease of the Brain

Frontotemporal Dementia

Alzheimer's Disease

Hidradenitis Suppurativa

Familial isolated dilated cardiomyopathy

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Presenilin familyGamma-secretase complex subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.