Species Human Entrez 25825 | Human Mouse Ensembl ENSG00000182240 | |
 | ||
Aliases BACE2, AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP, beta-site APP-cleaving enzyme 2 External IDs OMIM: 605668 MGI: 1860440 HomoloGene: 22696 GeneCards: BACE2 | ||
Beta-secretase 2 is an enzyme that in humans is encoded by the BACE2 gene.
Contents
BACE2 is a close homolog of BACE1, a protease known to be an important enzyme involved in the cellular pathways that some believe lead to Alzheimer's disease. The physiological function and role of BACE2 in Alzheimer's disease is unknown.
Function
Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of Down syndrome. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein by 2 proteases, one of which is the protein encoded by this gene. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease. Three transcript variants encoding different isoforms have been described for this gene. It has been reported that BACE2 is the main protease that mediates the release of the amyloidogenic ectodomain of Pmel17 in melanocytes.
Interactions
BACE2 has been shown to interact with GGA1 and GGA2.