Relevance to Autism

A de novo loss-of-function variant in the APBB1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. TADA-Annotations (TADA-A) analysis of whole-genome sequencing data from five studies with a total of 314 ASD-affected subjects in Liu et al., 2018 identified APBB1 as an ASD risk gene with a false discovery rate (FDR) < 0.1; among the de novo variants associated with this gene in ASD subjects was a loss-of-function variant, a regulatory SNV, and two conserved regulatory SNVs. APBB1 expression had previously been shown to be significantly down-regulated in the cerebellum of autistic patients (Zeidn-Chuli et al., 2014).

Molecular Function

Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain.

External Links

References