BACE1
Description
The BACE1 (beta-secretase 1) is a protein-coding gene located on chromosome 11.
BACE1, also known as beta-secretase 1, is an enzyme that is encoded by the BACE1 gene in humans. It is mainly expressed in neurons and oligodendrocytes. BACE1 is an aspartic acid protease involved in the formation of myelin sheaths in peripheral nerve cells. It contains two active site aspartate residues in its extracellular protein domain and may function as a dimer. BACE1 is produced as a pro-enzyme that undergoes endoproteolytic removal in the Golgi apparatus. Its expression is influenced by the inflammatory state. BACE1 is the major beta-secretase for the generation of amyloid-β peptides in neurons. It cleaves the amyloid precursor protein (APP), leading to the formation of amyloid-β peptides, which aggregate in the brains of Alzheimer's patients.
BACE1 is responsible for the proteolytic processing of the amyloid precursor protein (APP). It cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, 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. BACE1 also cleaves CHL1.
BACE1 is also known as ASP2, BACE, HSPC104.
Associated Diseases
- Alzheimer disease
- cancer
- Charcot-Marie-Tooth disease recessive intermediate D
- Charcot-Marie-Tooth disease type 2B1
- Ehlers-Danlos syndrome
- Charcot-Marie-Tooth disease type 4A
