PSEN1

(redirected from Presenilin 1)
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PSEN1

A gene on chromosome 14q24.3 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, and in linking chromatin to the nuclear membrane. PSEN1 stimulates cell–cell adhesion by associating with the E-cadherin/catenin complex; it cleaves E-cadherin during apoptosis or calcium influx, promoting the disassembly of the E-cadherin/catenin complex and increases the pool of cytoplasmic beta-catenin, thus downregulating Wnt signalling. It may play a role in haematopoiesis.

Molecular pathology
Defects in PSEN1 cause of Alzheimer disease type 3, frontotemporal dementia, cardiomyopathy dilated type 1U, and familial acne inversa type 3.
References in periodicals archive ?
Formula [1] is consistent with the phenotypes of almost all the familial AD mutations in APP and presenilin 1 genes; [K.
AD = Alzheimer disease; ADLs = activities of daily living; APP = amyloid precursor protein; PSENI and PSEN2 = presenilin 1 = and 2; CSF = cerebrospinal fluid; PET = positron emission tomography.
A study funded by the National Institute on Aging (NIA), part of the National Institutes of Health, shows the presenilin 1 (PS1) gene is essential to the function of lysosomes, the cell component that digests and recycles unwanted proteins.
These genes are those encoding amyloid precursor protein (APP), presenilin 1, and presenilin 2.
On chromosome 14, the mutation causes an abnormal protein called presenilin 1 to be produced.
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.
PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1.
Alzheimer's disease usually begins in the seventh to ninth decades of the life cycle, but an early onset Alzheimer's disease is well recognized Early onset Alzheimer's disease (1% of all cases) results from mutations in presenilin 1, presenilin 2 or the b-amyloid precursor protein gene.
Mutations in presenilin 1 may be found in as many as 1 person in 1000; the other two alleles are vanishingly rare.
There, the first gene was found--the presenilin 1 (PS1) gene on chromosome 14.
sup][2] found independent loss-of-function mutations in presenilin enhancer gamma-secretase subunit ( PSENEN ), presenilin 1 ( PSEN1 ), or Nicastrin ( NCSTN ), which encode essential components of the a-secretase multiprotein complex.