Relevance to Autism

Multiple de novo variants in the MSL2 gene, including two de novo loss-of-function variants and several de novo missense variants, have been identified in ASD probands (Iossifov et al., 2014; Zhou et al., 2022; Trost et al., 2022; Costa et al., 2023). Two de novo loss-of-function variants in this gene were also identified in Chinese NDD probands (Zhang et al., 2021).

Molecular Function

Predicted to enable ubiquitin protein ligase activity. Involved in histone H4-K16 acetylation. Part of MSL complex.

External Links

References