DISEASES

Disease-gene associations mined from literature

Literature associating BACE2 and Down syndrome

BACE2 [ENSP00000332979]

Beta-site amyloid precursor protein cleaving enzyme 2; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C- terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672.

Synonyms:  BACE2,  BACE2p,  hBACE2,  Q9Y5Z0,  AEPLC ...

Linkouts:  STRING  Pharos  UniProt  OMIM