OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeDominant
DescriptionAlzheimer`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 FunctionCell surface protease inhibitor (Van Nostrand et al, 1989).
Other PhenotypesAPP 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).
HomologsC.e. UVT-4, W01F3.3, C37C3.6
D.m. APPL, CG1540, CG3604
R.n. APLP2, LOC64312, TFPI
Primary ReferenceSt 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 ReferencesVan 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 LinksLocusLink:
KeywordsAlzheimer's disease, H. sapiens, human, neuron, neurodegenerative