OrganismCaenorhabditis elegans
Aging PhenotypeN/A
Allele TypeRecessive
DescriptionIn 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).
Gene FunctionComponent of the presenilin/gamma-secretase complex.
Other PhenotypesIn 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).
Primary Reference
Other References
Relevant Links
Keywordsnicastrin, APH-2, gamma-secretase, APH-1, PEN-2, Alzheimer disease, neurodegeneration, Notch pathway, APP