PSEN1

Presenilin-1 is a protein that in humans is encoded by the PSEN1 gene.^[1]

Function

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma secretase activity or themselves are protease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined.^[2]

Interactions

PSEN1 has been shown to interact with ICAM5,^[3] UBQLN1,^[4] Beta-catenin,^[5][6][7] FLNB,^[8] Glial fibrillary acidic protein,^[9] Nicastrin,^{[10][11][12][13][14]} CTNND1,^[15] PKP4,^[16] Bcl-2^[17] and Calsenilin.^[18][19]

References

Further reading

External Links

• GeneReviews/NCBI/NIH/UW entry on Early-Onset Familial Alzheimer Disease