Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and amyloid beta-peptides precursors. PSEN1 mutations cause early-onset alzheimer disease type 3 that may occur as early as 30 years of age in humans.

Symptoms and diagnosis



We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.