Identity
HGNC
LOCATION
14q24.2
LOCUSID
ALIAS
ACNINV3,AD3,FAD,PS-1,PS1,S182
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5663
MIM: 104311
HGNC: 9508
Ensembl: ENSG00000080815
Variants:
dbSNP: 5663
ClinVar: 5663
TCGA: ENSG00000080815
COSMIC: PSEN1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38103630 | 2024 | Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation. | 0 |
| 38215435 | 2024 | Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings. | 1 |
| 38227890 | 2024 | Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications. | 0 |
| 38380882 | 2024 | Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage. | 1 |
| 38824433 | 2024 | The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations. | 1 |
| 38851626 | 2024 | Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca(2+)](i) distribution in human iPSC-derived cardiomyocytes. | 0 |
| 38103630 | 2024 | Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation. | 0 |
| 38215435 | 2024 | Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings. | 1 |
| 38227890 | 2024 | Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications. | 0 |
| 38380882 | 2024 | Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage. | 1 |
| 38824433 | 2024 | The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations. | 1 |
| 38851626 | 2024 | Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca(2+)](i) distribution in human iPSC-derived cardiomyocytes. | 0 |
| 35949106 | 2023 | Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. | 4 |
| 36217304 | 2023 | The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population. | 2 |
| 36261293 | 2023 | Epithelial presenilin-1 drives colorectal tumour growth by controlling EGFR-COX2 signalling. | 1 |
Citation
Dessen P
PSEN1 (presenilin 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47223/psen1-(presenilin-1)
