Aliases for APH1B Gene
External Ids for APH1B Gene
Previous GeneCards Identifiers for APH1B Gene
This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
GeneCards Summary for APH1B Gene
APH1B (Aph-1 Homolog B, Gamma-Secretase Subunit) is a Protein Coding gene. Diseases associated with APH1B include Immunodeficiency 51 and Aortic Valve Disease 1. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and IL-2 Pathway. Gene Ontology (GO) annotations related to this gene include peptidase activity. An important paralog of this gene is APH1A.
UniProtKB/Swiss-Prot Summary for APH1B Gene
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.