Aliases for APH1A Gene
External Ids for APH1A Gene
Previous GeneCards Identifiers for APH1A Gene
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]
GeneCards Summary for APH1A Gene
APH1A (Aph-1 Homolog A, Gamma-Secretase Subunit) is a Protein Coding gene. Diseases associated with APH1A include Acne Inversa, Familial, 1 and Alzheimer Disease. Among its related pathways are A-beta Signaling Pathways and p75 NTR receptor-mediated signalling. GO annotations related to this gene include endopeptidase activity. An important paralog of this gene is APH1B.
UniProtKB/Swiss-Prot for APH1A Gene
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 probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex.