MBTPS2
Description
The MBTPS2 gene, encodes a transmembrane protein known as the beta subunit of the mammalian beta-site amyloid precursor protein cleaving enzyme (BACE) complex. This complex plays a vital role in the processing of amyloid precursor protein (APP), a protein implicated in Alzheimer‘s disease. MBTPS2 interacts with other BACE complex subunits to facilitate the proper localization and activation of BACE1, the primary enzyme responsible for cleaving APP. This intricate interplay ensures efficient amyloid beta peptide production, a key component in the formation of amyloid plaques characteristic of Alzheimer‘s disease.
Associated Diseases
- Alzheimer‘s disease
- Familial Alzheimer‘s disease
- Cerebral amyloid angiopathy
- Down syndrome
- Other neurodegenerative diseases
Did you know?
Mutations in MBTPS2 have been linked to an increased risk of developing Alzheimer‘s disease, highlighting the gene‘s significant role in the disease‘s pathogenesis.
