PSEN1

(redirected from S182)

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 ?
2015 Summary 09/19/2015 S182 Member states - Service contract - Contract award - Open procedure
In six of those families, the researchers report in the June 29 Nature, mutations in the S182 gene on chromosome 14 account for up to 70 percent of all early-onset cases of Alzheimer's.
09/14/2015 Summary 09/19/2015 S182 Member states - Service contract - Contract award - Open procedure