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APH1A GeneAPH1A gamma secretase subunit 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] |
aph1a Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term aph1a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
APH1A Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for APH1A from the Pathway Commons Protein-Protein Interactions dataset. |
APH1A Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the APH1A gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |
APH1A-PSEN1-NCSTN complex Gene Setproteins in the APH1A-PSEN1-NCSTN complex protein complex from the CORUM Protein Complexes dataset. |
Gamma-secretase complex (Aph1a, Ncstn, Psen1, Psenen, Tmp21) Gene Setproteins in the Gamma-secretase complex (Aph1a, Ncstn, Psen1, Psenen, Tmp21) protein complex from the CORUM Protein Complexes dataset. |
APH1A-PSEN2-NCSTN complex Gene Setproteins in the APH1A-PSEN2-NCSTN complex protein complex from the CORUM Protein Complexes dataset. |
Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) Gene Setproteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) protein complex from the CORUM Protein Complexes dataset. |
Gamma-secretase complex (APH1A, PSEN2, PSENEN, NCSTN) Gene Setproteins in the Gamma-secretase complex (APH1A, PSEN2, PSENEN, NCSTN) protein complex from the CORUM Protein Complexes dataset. |
Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN) Gene Setproteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN) protein complex from the CORUM Protein Complexes dataset. |