PSEN1

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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 ?
Focusing on his work and squatting in front of the engine, the AD3 was crewing on the oil-bypass bowl when the engine roared to life.
One of those final checkers, AD3 Charles White, was standing prop guard on the starboard side of the aircraft when--out of the corner of his eye--he noticed a blue blur whiz by.
AD3 Gary Cooper, assigned to HSC-28, does maintenance on an MH-60S aboard USS Wasp (LHD-1).
Since we were short on mechs, an AD3 who had recently transferred from power plants to the troubleshooter shack was assigned to help with the workload.
While the AD1 prepped the safety equipment for the engine wash, the AD3 (who would serve as turn operator) reviewed the ADB and attended the turn brief in Maintenance Control.
When the AD3 did a pre-turn walk-around, he noticed the oil level was low, but he attributed it to the cold temperature.
The AD3 returned to the cockpit for the first fuel-introduced engine turn.
The AD3 conducted pre-start engine-fire light checks and continued with normal start procedures.
The CDI, AD3 Canseco, briefed the PC and me on the specifics of the job.
AD3 Galen Hannah applies erosion film on the propeller blade of an E-2C Hawkeye assigned to VAW-113 aboard USS Ronald Reagan (CVN-76).
With the aircraft back in our hangar, the AD3 left the panel in place because he (and others) assumed that the panel did not have to be removed as part of the inspections.
ADAN Joan Medina, left, and AD3 Elman Pena perform a level III preservation on the NRFI F-414 fan module of a turbo-fan engine from an FA-18F Super Hornet aboard the aircraft carrier USS John C.