DISEASES

Disease-gene associations mined from literature

PSEN2 disease associations

PSEN2 [ENSP00000355747]

Presenilin-2 CTF subunit; 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. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis . Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria . ECO:0000269|PubMed:10652302, ECO:0000269|PubMed:16959576,

Synonyms:  PSEN2,  PSEN2p,  hPSEN2,  B1AP22,  E5RFW4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM