Relevance to Autism

Three de novo variants in this gene (one nonsense, two missense) have been identified in simplex ASD probands (Iossifov et al., 2012; De Rubeis et al., 2014). Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family (Yuen et al., 2015). This gene was also included in a set of genes strongly enriched for those likely to affect risk (FDR < 0.30) (De Rubeis, et al., 2014).

Molecular Function

This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain that inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination.

External Links

References