BACE2

Description

The BACE2 (beta-secretase 2) is a protein-coding gene located on chromosome 21.

BACE2 (Beta-secretase 2) is an enzyme that cleaves Glu-Val-Asn-Leu!Asp-Ala-Glu-Phe in the Swedish variant of Alzheimer's amyloid precursor protein. BACE2 is a close homolog of BACE1. BACE2 is involved in the processing of the amyloid precursor protein (APP) leading to the production of amyloid beta peptide. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein is a type I integral membrane glycoprotein and aspartic protease. BACE2 has been shown to be the main protease that mediates the release of the amyloidogenic ectodomain of Pmel17 in melanocytes. BACE2 has also been observed in mice to be correlated with maintaining the pancreatic β cells and improving control of glucose homeostasis. BACE2 interacts with GGA1 and GGA2.

BACE2 is involved in the proteolytic processing of the amyloid precursor protein (APP), cleaving it 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 to cleave APP between residues 671 and 672. BACE2 is also involved in the proteolytic shedding of PMEL at early stages of melanosome biogenesis, cleaving PMEL within the M-beta fragment to release the amyloidogenic PMEL luminal fragment containing M-alpha and a small portion of M-beta N-terminus. This is a prerequisite step for subsequent processing and assembly of PMEL fibrils into amyloid sheets. BACE2 is also responsible for the proteolytic processing of CLTRN in pancreatic beta cells.

BACE2 is also known as AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP.

Associated Diseases

WES Whole Exome Sequencing