PSEN2, which stands for presenilin 2, is a protein encoded by the PSEN2 gene. It is an integral membrane protein that is a key component of the gamma-secretase enzyme complex. This complex is involved in the cleavage of amyloid precursor protein (APP), which generates amyloid-beta peptides. Mutations in the PSEN2 gene have been linked to early-onset familial Alzheimer's disease, as these mutations can lead to an increased production of amyloid-beta 42, a peptide that is more prone to aggregate and form plaques in the brain. PSEN2 is primarily located in the endoplasmic reticulum and Golgi apparatus, and it plays a crucial role in regulating cellular processes such as protein trafficking and signal transduction.
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