Summary

PSEN1 encodes a protein called presenilin 1. It cuts other proteins into smaller pieces called peptides. It is an important step in several chemical signaling pathways that transmit signals from outside the cell into the nucleus and is essential for the normal maturation and division hair and skin cells. It is also involved in normal immune system function (R).

Mutations can cause Alzheimer's and skin and heart disorders (R)


Function

Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.

Get a Grip on Your Health. Use SelfDecode to Interpret your Genome Today! GET INSTANT ACCESS

Top Gene-Substance Interactions

Gene Interacts with Diseases

All Ways to Increase Gene

All Ways to Decrease Gene

Advanced Summary

Conditions with Increased Gene Activity

Conditions with Decreased Gene Activity

Technical