Relevance to Autism

Two de novo loss-of-function (LoF) variants and a de novo missense variant in the PSMD6 gene have been identified in ASD probands from the Autism Sequencing Consortium, the SPARK cohort, and the MSSNG cohort (Satterstrom et al., 2020; Zhou et al., 2022; Trost et al., 2022), while an additional protein-truncating variant in this gene was observed in an ASD proband, compared to none in controls, from a case-control cohort (Trost et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified PSMD6 as an ASD-associated gene with a false discovery rate (FDR) < 0.1.

Molecular Function

This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins.

External Links

References