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Presenilin
From Wikipedia, the free encyclopedia
| Presenilin 2 | |
|---|---|
| Symbol(s): | PSEN2 AD4 |
| Genetic data | |
| Locus: | Chr. 1 q31-q42 |
| Protein Structure/Function | |
| Protein length: | 467 (Amino Acids) |
| Database Links | |
| Codes: | EntrezGene 5664, RefSeq NM_000447, UniProt 49810, Mendelian Inheritance in Man (OMIM) 600759 |
Presenilins are a family of related multi-pass transmembrane proteins that function as a part of the gamma-secretase protease complex. Vertebrates have two presenilin genes, called PSN1 that produces presenilin1 and PSN2 located on chromosome 1 that produces the presenilin 2. Invertebrates such as the fruit fly have only a single presenilin.
Presenilins undergo cleavage in one of the cytoplasmic loops to produce a larger N-terminal and a smaller C-terminal fragment which together form part of the functional protein.
Mutations in the presenilin proteins are known to cause early onset Alzheimer's disease through mechanisms which are still being elucidated.
In patients suffering from Alzheimer's disease (autosomal dominant hereditary), mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP) can be found. These mutations result in increased production of the longer form of amyloid-beta. Presenilin proteins are believed to regulate amyloid precursor protein processing through their effects on gamma-secretase, an enzyme that cleaves APP.
Mutations in this gene were first reported in 1995.
The gene has two isoforms.
- Rogaev E, Sherrington R, Rogaeva E, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T (1995). "Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.". Nature 376 (6543): 775-8. PMID 7651536.
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Sherrington, R., Rogaev, E.I., Liang, Y., Rogaeva, E.A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Foncin, J.-F., Bruni, A.C., Montesi, M.P., Sorbi, s., Rainero, I., Pinessi, L., Nee, L., Chumakov, Y., Pollen, D., Wasco, W., Haines, J.L., DaSilva, R., Pericak-Vance, M.., Roses, A.D., Tanzi, R.E., Fraser, P.E. Fraser, P.E., Rommens, J.M., and St. George-Hyslop, P.H. (1995) Cloning of a novel gene bearing missence mutations in early onsef familial Alzheimer disease. Nature, 375:754-760.
Levy-Lehad, E., Wasco, W., Poorkaj, P., Romano, D.M., Oshima, J., Pettingell, W.H., Yu, C.,Jondro, P.D., Schmidt, S.D., Wang, K., Crowley, A.C., Fu, Y.H., Guenette, S.Y., Galas, D., Nemens, E., Wijsman, E.M., Bird, T.D., Schellengerg, G.D., Tanzi, R.E. (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus.