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| | Name | aph-1 |
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| Organism | Caenorhabditis elegans |
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| Aging Phenotype | N/A |
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| Allele Type | Recessive |
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| Strain | N2 |
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| Description | In aph-1 mutant 4-cell stage embryos of C. elegans, the APH-2 protein does not localize to the cell membrane as it should. APH-2 is an orthologue of the human protein nicastrin, which associates with presenilins in the gamma-secretase complex. Presenilin deficient embryos also exhibit mislocalization of APH-2 (Goutte et al, 2002). |
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| Gene Function | Component of the presenilin/gamma-secretase complex. |
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| Other Phenotypes | In cultured Drosophila cells, downregulation of APH-1 causes a decrease in presenilin-1 levels and a decrease in beta-amyloid production (Francis et al, 2002). |
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| Homologs | |
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| Primary Reference | |
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| Keywords | nicastrin, APH-2, gamma-secretase, APH-1, PEN-2, Alzheimer disease, neurodegeneration, Notch pathway, APP |
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