OrganismCaenorhabditis elegans
Aging PhenotypeN/A
Allele TypeRecessive
DescriptionRNAi mediated inactivation of PEN-2 in cultured Drosophila cells reduces gamma-secretase cleavage of beta-APP (Francis et al, 2002).
PEN-2 co-immunoprecipitates with presenilins and nicastrin. Downregulation of nicastrin with RNAi reduces PEN-2 expression and downregulation of PEN-2 with RNAi is correlated with reduced presenilin/gamma-secretase complex formation (Steiner et al, 2002).
Gene FunctionPEN-2 is a component of presenilin/gamma secretase complexes (Francis et al., 2002).
Other PhenotypesHuman aph-1 and pen-2 partially rescue the C. elegans mutant phenotypes, demonstrating conserved functions. The human genes must be provided together to rescue the mutant phenotypes, and the inclusion of presenilin-1 improves rescue, suggesting that they interact closely with each other and with presenilin (Francis et al., 2002).
Primary Reference
Other References
Relevant Links
KeywordsAlzheimer disease, neurodegeneration, APH-1, PEN-2, Notch pathway, gamma-secretase, APP, presenilin-1