DISEASES

Disease-gene associations mined from literature

Literature associating APH1A and CST3-related cerebral amyloid angiopathy

APH1A [ENSP00000358105]

Gamma-secretase subunit APH-1A; 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) (PubMed:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). 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). ECO:0000269|PubMed:12471034, ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:12763021, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335,; Belongs to the APH-1 family.

Synonyms:  APH1A,  APH1Ap,  hAPH1A,  Q5TB21,  Q96BI3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM