Disease-gene associations mined from literature

Literature associating PSENEN and hidradenitis

PSENEN [ENSP00000468411]

Presenilin enhancer gamma secretase subunit; Essential 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). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity; Belongs to the PEN-2 family.

Synonyms:  PSENEN,  K7ERS5,  K7ES79,  Q9NZ42,  K7ERS5p ...

Linkouts:  STRING  Pharos  UniProt