presenilin2

Presenilin 2, also known as PSEN2, is a protein-coding gene found in humans. It is one of two genes, along with presenilin 1, that encode presenilin proteins. These proteins are integral membrane proteins located in the endoplasmic reticulum and Golgi apparatus. Presenilin 2 is a catalytic subunit of the gamma-secretase complex, an intramembrane-cleaving protease. This complex plays a crucial role in the processing of various transmembrane proteins, most notably the amyloid precursor protein (APP).

Mutations in the PSEN2 gene are associated with early-onset familial Alzheimer's disease (FAD). These mutations often lead to an altered cleavage of APP, resulting in the increased production of amyloid-beta peptides, particularly the aggregation-prone A beta 42. The accumulation of these peptides in the brain is a hallmark of Alzheimer's disease, contributing to the formation of amyloid plaques and neurodegeneration. While presenilin 2 mutations account for a smaller proportion of FAD cases compared to presenilin 1 mutations, they are functionally significant in understanding the molecular mechanisms underlying the disease. Research continues to investigate the precise roles of presenilin 2 in cellular processes beyond APP processing, including Notch signaling and other intramembrane proteolysis events.