Literature associating APH1A and immunodeficiency 51
Presenilin-stabilization factor; Non-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). Required for normal gamma- secretase assembly. 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); Belongs to the APH-1 family.
Synonyms: APH1A, APH1Ap, hAPH1A, B4DMX8, Q5TB21 ...