Gene Symbol | PSEN1 |
Entrez Gene ID | 5663 |
Full Name | presenilin 1 |
Synonyms | AD3,FAD,PS-1,PS1,S182 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Aug 2008]. |
Disorder MIM: | |
Disorder Html: | Alzheimer disease, type 3, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3); Dementia, frontotemporal, 600274 (3); Pick disease, 172700 (3); Cardiomyopathy, dilated, 1U, 613694 (3); Acne inversa, familial, 3, 613737 (3) |