This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
Pathway
Activated NOTCH1 Transmits Signal to the Nucleus; Alzheimer's disease; Alzheimers Disease; Axon guidance; Cell death signalling via NRAGE; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants; Constitutive Signaling by NOTCH1 PEST Domain Mutants; Delta-Notch Signaling Pathway
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