Disease-gene associations mined from literature

Literature associating BACE1 and early infantile epileptic encephalopathy 5

BACE1 [ENSP00000318585]

Beta-site amyloid precursor protein cleaving enzyme 1; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads 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; Belongs to the peptidase A1 family.

Synonyms:  BACE1,  BACE1p,  hBACE1,  A0A024R3D5,  A0A024R3D7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM