Relevance to Autism

A loss-of-function variant in the DOCK1 gene was identified in an ASD proband and an ASD-affected mother, but not in an unaffected sibling (Griswold et al., 2015). A de novo missense variant in this gene was also identifed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration.

External Links

References