Disease related genes, Human disease related genes
Intracellular, Membrane (different isoforms)
Cell type enhanced (Syncytiotrophoblasts)
Low immune cell specificity
Low cell line specificity
Component of the gamma-secretase complex (PubMed:10993067, 30598546, 30630874). The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN/PEN2 (PubMed:12740439, 25043039, 26623517, 26280335, 25918421, 30598546, 30630874). Binds to proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP) (PubMed:10993067, 30630874). Interacts with PSEN1 and PSEN2 (PubMed:10993067).
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For Research Use Only. Not For Clinical Use.