Aliases for BACE1 Gene
External Ids for BACE1 Gene
Previous HGNC Symbols for BACE1 Gene
Previous GeneCards Identifiers for BACE1 Gene
This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
GeneCards Summary for BACE1 Gene
BACE1 (Beta-Secretase 1) is a Protein Coding gene. Diseases associated with BACE1 include Alzheimer Disease and Deafness, Autosomal Recessive 74. Among its related pathways are A-beta Signaling Pathways and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and endopeptidase activity. An important paralog of this gene is BACE2.
UniProtKB/Swiss-Prot Summary for BACE1 Gene
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 (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity).