Beta-secretase 2
BACE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | BACE2, AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP, beta-site APP-cleaving enzyme 2, beta-secretase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605668; MGI: 1860440; HomoloGene: 22696; GeneCards: BACE2; OMA:BACE2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Beta-secretase 2 (EC 3.4.23.45, also known as Memapsin-1) is an enzyme[5][6][7][8] that cleaves Glu-Val-Asn-Leu!Asp-Ala-Glu-Phe in the Swedish variant of Alzheimer's amyloid precursor protein. BACE2 is a close homolog of BACE1.
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.[8] It has been reported that BACE2 is the main protease that mediates the release of the amyloidogenic ectodomain of Pmel17 in melanocytes. [9] BACE2 has also been observed in mice to be correlated with maintaining the pancreatic β cells and improving control of glucose homeostasis, which may prove to be useful for research on Type 2 Diabetes.[10]
Interactions
BACE2 has been shown to interact with GGA1[11] and GGA2.[11]
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