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Name APP Organism Homo sapiens Aging Phenotype N/A Allele Type Dominant Strain N/A Description Alzheimer`s disease is characterized by gradual, progressive loss in cognitive functioning and changes in personality due to severe brain atrophy. Postmortem detection of extensive neuronal death, senile plaques and neurofibrillary tangles are diagnostic. Genetic linkage studies revealed a locus on chromosome 21 associated with familial Alzheimer`s disease (St. George-Hyslop et al., 1987). Gene Function Cell surface protease inhibitor (Van Nostrand et al, 1989). Other Phenotypes APP is a housekeeping gene encoding an integral membrane protein. After endoproteolytic cleavage amyloid beta-protein is released. Various mutations in APP result in the release of a longer than normal, more fibrillogenic amyloid beta-protein that progressively accumulates to form senile plaques (Van Gassen and Van Broeckhoven, 2000). Homologs C.e. UVT-4, W01F3.3, C37C3.6 … D.m. APPL, CG1540, CG3604 … R.n. APLP2, LOC64312, TFPI … M.m. APP, APLP2, APLP1 … H.s. APLP1, SPINT2 … Primary Reference St George-Hyslop, P. H., Tanzi, R. E., Polinsky, R. J., Haines, J. L., Nee, L., Watkins, P. C., Myers, R. H., Feldman, R. G., Pollen, D., Drachman, D., and et al. (1987). The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Scien [Abstract] Other References Van Gassen, P. H., and Van Broeckhoven, C. (2000). Molecular genetics of Alzheimer's disease: what have we learned? Act Neurolog Belg 100, 65-76. Van Nostrand, W. E., Wagner, S. L., Suzuki, M., Choi, B. H., Farrow, J. S., Geddes, J. W., Cotman, C. W., and Cunningham, D. D. (1989). Protease nexin-II, a potent antichymotrypsin, shows identity to amyloid beta-protein precursor. Nature 341, 546-9. [Abstract] Relevant Links LocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=351 Keywords Alzheimer's disease, H. sapiens, human, neuron, neurodegenerative