NamePSEN2
OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeDominant
StrainN/A
DescriptionBased on squence similarity with PSEN1, PSEN2 was mapped to chromosome 1 (Levy Lahad et al., 1995). PSEN2 is only rarely mutated, but it is thought that the mutations result in increased production of abnormally long amyloid beta-protein and increased senile plaque formation (Van Gassen and Van Broeckhoven, 2000).
Gene FunctionUnknown. May be a component of the gamma secretase complex that cleaves APP.
Other PhenotypesAlzheimer`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.
HomologsC.e. Sel-12, Hop-1
D.m. PSN
R.n. PSEN1, PSEN2
M.m. PSEN1, PSEN2
H.s. PSEN1
Primary ReferenceLevy-Lahad, E., Wijsman, E. M., Nemens, E., Anderson, L., Goddard, K. A., Weber, J. L., Bird, T. D., and Schellenberg, G. D. (1995). A familial Alzheimer's disease locus on chromosome 1. Science 269, 970-3. [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.
Relevant LinksLocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=5664
OMIM: http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=600759
KeywordsAlzheimer's disease, H. sapeins, human, neuron, neurodegenrative