DISEASES

Disease-gene associations mined from literature

Literature associating APH1A and immunodeficiency 51

APH1A [ENSP00000358105]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM