Disease-gene associations mined from literature

Literature associating APH1B and immunodeficiency 51

APH1B [ENSP00000261879]

Presenilin-stabilization factor-like; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.

Synonyms:  APH1B,  APH1Bp,  hAPH1B,  APH-1B,  H0YKZ9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM