PSEN1 Chromosome 14
Presenilin 1
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What This Gene Does
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"Presenilin family|Gamma-secretase complex subunits"
Locus Type
gene with protein product
Location
14q24.2
Ensembl
ENSG00000080815
Associated Conditions (35)
Dilated cardiomyopathy 1U
Alzheimer disease 3
Pick disease
Acne inversa
familial
3
Frontotemporal dementia
PSEN1-related disorder
Primary dilated cardiomyopathy
Heart failure
Inborn genetic diseases
Colon adenocarcinoma
Alzheimer disease
with spastic paraparesis and apraxia
Telangiectasia
hereditary hemorrhagic
type 1
with unusual plaques
Alzheimer disease familial 3
with spastic paraparesis
+15 more conditions
Key Variants
RS115760359
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease
Health Risk
RS116466962
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease
Health Risk
RS116640707
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Alzheimer disease 3, Frontotemporal dementia
Health Risk
RS117394753
Conflicting classifications of pathogenicity
Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
Health Risk
RS121917809
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Primary dilated cardiomyopathy, Heart failure
Health Risk
RS138620990
Conflicting classifications of pathogenicity
Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
Health Risk
RS1398951357
Conflicting classifications of pathogenicity
Acne inversa, familial, 3
Health Risk
RS141799841
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
Health Risk
RS143782428
Conflicting classifications of pathogenicity
Alzheimer disease 3, Dilated cardiomyopathy 1U, Pick disease
Health Risk
RS144455736
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
Health Risk
RS147866042
Conflicting classifications of pathogenicity
Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
Health Risk
RS149562759
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1U, Alzheimer disease 3, Colon adenocarcinoma
Health Risk
All Variants (154)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS63750053 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750082 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63750218 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63750231 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63750265 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63750306 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63750311 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750323 | Health Risk | Pathogenic | Pick disease, Thyroid cancer, nonmedullary |
| RS63750391 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Frontotemporal dementia |
| RS63750470 | Health Risk | Pathogenic | Alzheimer disease, familial, 3 |
| RS63750526 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63750550 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750577 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63750590 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63750631 | Health Risk | Pathogenic | Alzheimer disease, familial, 3 |
| RS63750646 | Health Risk | Pathogenic | — |
| RS63750730 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750761 | Health Risk | Pathogenic | Familial Alzheimer disease, Familial Alzheimer disease |
| RS63750886 | Health Risk | Pathogenic | Spastic paraparesis, Alzheimer disease 3, Frontotemporal dementia |
| RS63750900 | Health Risk | Pathogenic | Alzheimer disease 4, Pick disease, Acne inversa |
| RS63750929 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750963 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750964 | Health Risk | Pathogenic | Early onset Alzheimer disease with behavioral disturbance, Alzheimer disease 3, Pick disease |
| RS63751032 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63751037 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63751068 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Alzheimer disease 3 |
| RS63751102 | Health Risk | Pathogenic | Adult onset neurodegenerative disorder, Adult onset neurodegenerative disorder |
| RS63751106 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63751139 | Health Risk | Pathogenic | Early-onset autosomal dominant Alzheimer disease, Pick disease, Frontotemporal dementia |
| RS63751141 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63751144 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63751163 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63751235 | Health Risk | Pathogenic | Alzheimer disease 3, Early-onset autosomal dominant Alzheimer disease, Alzheimer disease 3 |
| RS63751272 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63751287 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS63751416 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63751475 | Health Risk | Pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS661 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Acne inversa |
| RS749249788 | Health Risk | Pathogenic | Alzheimer disease 3, Acne inversa, familial |
| RS778630379 | Health Risk | Pathogenic | Alzheimer disease 3, Pick disease, Frontotemporal dementia |
| RS1555355250 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia, Acne inversa, familial |
| RS63749805 | Health Risk | Pathogenic/Likely pathogenic | Alzheimer disease 3, Pick disease, Frontotemporal dementia |
| RS63750050 | Health Risk | Pathogenic/Likely pathogenic | Acne inversa, familial, 3 |
| RS63750219 | Health Risk | Pathogenic/Likely pathogenic | Alzheimer disease 3, Alzheimer disease, familial |
| RS63750248 | Health Risk | Pathogenic/Likely pathogenic | Alzheimer disease 3, Pick disease, Frontotemporal dementia |
| RS63750301 | Health Risk | Pathogenic/Likely pathogenic | Dementia, Mental deterioration, Pick disease |
| RS63750450 | Health Risk | Pathogenic/Likely pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |
| RS63750599 | Health Risk | Pathogenic/Likely pathogenic | Alzheimer disease, familial, 3 |
| RS63751024 | Health Risk | Pathogenic/Likely pathogenic | Alzheimer disease 3, Alzheimer disease 3 |
| RS63751210 | Health Risk | Pathogenic/Likely pathogenic | Pick disease, Frontotemporal dementia, Alzheimer disease 3 |