Literature associating PSEN2 and Gerstmann syndrome
Presenilin 2; 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 (amyloid-beta 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. May function in the cytoplasmic partitioning of proteins.
Synonyms: PSEN2, PSEN2p, hPSEN2, B1AP22, B4DVM3 ...