presenilin-1 (PS-1) gene
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Function
- gene appears to be essential for viability from studies with PS-1 knockout mice.
Pathology
- 75 missense mutations in the PS-1 gene give rise to familial Alzheimer's disease type 3
- these mutations result in ~1.2-3x increase production of A-beta 42 (amyloid beta 1-42)
More general terms
Additional terms
- familial Alzheimer's disease type 3 (FAD3), AD3 locus/presenilin-1 mutation associated
- presenilin-1 (PS-1) knockout mouse
References
- ↑ The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group. Nat Genet. 1995 Oct;11(2):219-22. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7550356
- ↑ Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11274343