Entrez gene ID | | 25825 |
Official gene symbol | | BACE2 |
Full name | | beta-site APP-cleaving enzyme 2 |
Aliases | | ,AEPLC,ALP56,ASP1,ASP21,BAE2,CDA13,CEAP1,DRAP, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 21 Locus: 21q22.3 |
Gene position | | 42539728 - 42648524 Map Viewer |
Gene orientation | | plus |
Gene size | | 108797 bp |
Gene sequence |
| |
OMIM ID | | 605668 |
|