Human pathology

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BACE1

MIM.604252 11q23.3

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APP processing pathway
beta secretase, beta-site App-cleaving enzyme, BACE, memapsin-2, beta-site amyloid beta A4 precursor protein-cleaving enzyme

Definition: ?-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.

Function

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 ?-secretase at the N and C termini of A?, respectively.