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MIM.605254 Chr.1

Wednesday 14 May 2008

Nicastrin is a type-1 transmembrane glycoprotein that forms high molecular mass gamma-secretase complexes with presenilin-1 (PSEN1) (MIM.104311) and presenilin-2 (PSEN2) (MIM.600759) that are necessary for the endoproteolysis of several type-1 transmembrane proteins, including beta-amyloid precursor protein (beta-APP) (MIM.104760) and Notch receptor (MIM.190198).


- Helisalmi, S.; Dermaut, B.; Hiltunen, M.; Mannermaa, A.; Van den Broeck, M.; Lehtovirta, M.; Koivisto, A. M.; Iivonen, S.; Cruts, M.; Soininen, H.; Van Broeckhoven, C. : Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population. Neurology 63: 173-175, 2004. PubMed ID : 15249634

- Dermaut, B.; Theuns, J.; Sleegers, K.; Hasegawa, H.; Van den Broeck, M.; Vennekens, K.; Corsmit, E.; St. George-Hyslop, P.; Cruts, M.; van Duijn, C. M.; Van Broeckhoven, C. : The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. Am. J. Hum. Genet. 70: 1568-1574, 2002. PubMed ID : 11992262