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MIM.604252 11q23.3

Friday 18 January 2008

Definition: β-Secretase (BACE) is an aspartic acid protease that is important in the pathogenesis of Alzheimer disease (AD) (MIM.104300) and in the formation of myelin sheaths in peripheral nerves.


Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer disease (AD) (MIM.104300). Amyloid beta generation depends on proteolytic cleavage of amyloid precursor protein (APP) (MIM.104760) by 2 proteases, beta-secretase and gamma-secretase.

Amyloidogenic processing of APP involves sequential cleavages by BACE1 and γ-secretase at the N and C termini of Aβ, respectively.