Gamma-secretase subunit APH1A (APH-1A) is a Notch signaling pathway protein and belongs to the APH-1 family. It is an essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It is likely a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. It is widely expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.
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Protein Aliases: 6530402N02Rik; anterior pharynx defective 1 homolog A; anterior pharynx defective 1a homolog; APH-1; aph-1 homolog A, gamma secretase subunit; APH-1A; Aph-1alpha; APH1A gamma secretase subunit; CGI-78; Gamma-secretase subunit APH-1A; Presenilin-stabilization factor; RP4-790G17.3
Gene Aliases: 6530402N02Rik; APH-1; APH-1A; APH1; APH1A; BOS_2946; CGI-78; PSF; RGD1311546; UNQ579/PRO1141
UniProt ID: (Human) Q96BI3
Molecular Function: enzyme modulator