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.
[edit] Function
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.
[edit] References
- 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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Ankyrin - Arrestin - Calnexin - Connexin - Dystrophin - Ephrin - Heterotrimeric GTP-binding proteins - LDL-receptor-related protein associated protein - Membrane fusion proteins - Membrane glycoproteins - Membrane transport proteins - Myelin basic protein - Neurofibromin 2 - Phospholipid transfer proteins - Pore forming toxins - Presenilin - Protoporphyrinogen oxidase - Pulmonary surfactant-associated protein B - Pulmonary surfactant-associated protein C - Spectrin - Transmembrane receptors - Utrophin - Vesicular transport proteins
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.
