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) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). 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.
Acne inversa, familial, 1
ACNINV1
A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
None
The disease is caused by variants affecting the gene represented in this entry.
N-glycosylated.
Belongs to the nicastrin family.
Detected in brain (at protein level) (PubMed:10993067). Widely expressed (PubMed:11396676).
Proteins
Neuroscience
78411Da
We found 9 products in 3 categories
ab45425
ab3444
ab62508