BACE2

Chr 21

beta-secretase 2

Also known as: AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP

NCBI Gene: 25825 ENSG00000182240 UniProt: Q9Y5Z0

The protein functions as an aspartic protease that cleaves amyloid precursor protein to generate amyloid beta peptide and processes other substrates including PMEL in melanosomes and collectrin in pancreatic beta cells. Mutations cause Alzheimer disease type 4 with autosomal dominant inheritance. The gene shows relatively low constraint to loss-of-function variants (pLI = 0.007, LOEUF = 0.689).

ResearchSummary from RefSeq, UniProt

This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)