| Entrez gene ID | | 5663 |
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| Official gene symbol | | PSEN1 |
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| Full name | | presenilin 1 |
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| Aliases | | ,AD3,FAD,PS1,S182, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 14 Locus: 14q24.3 |
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| Gene position | | 73603143 - 73690399 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 87257 bp |
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| Gene sequence |
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| OMIM ID | | 104311 |
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