Relevance to Autism

A de novo non-coding variant that was predicted to target the BACE1 gene via chromatin interactions was identified in a Korean ASD proband from a simplex family in Kim et al., 2022; functional analysis in human induced pluripotent stem cells derived from the proband and the proband's parents demonstrated that this variant resulted in significantly increased levels of BACE1 expression in patient-derived hiPSCs compared to parent-derived hiPSCs. A rare de novo intronic variant in this gene had previously been identified in an ASD proband from the Simons Simplex Collection in Turner et al., 2017. Elevated levels of BACE1 transcript was observed in peripheral blood from ASD individuals compared to matched healthy controls in Ghafouri-Fard et al., 2020. BACE1 has also been linked to schizophrenia (Savonenko et al., 2008)

Molecular Function

This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein.

External Links

References