Disease-gene associations mined from literature

Literature associating PSEN2 and Gerstmann syndrome

PSEN2 [ENSP00000355747]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM