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BACE2

Synonyms
AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,234
Likely benign
911
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BACE2 gene.

Phenotype class
Patients in 3billion (%)

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