rs371254480
This variant is located in the BACE2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout BACE2
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]
View all BACE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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