Relevance to Autism

A compound heterozygous variant involving the DOCK10 gene, consisting of a maternally-inherited deletion and a paternally-inherited missense variant, was identified in a male patient with ASD and intellectual disability; both of the patient's unaffected siblings carried the maternally-inherited deletion but not the paternally-inherited missense variant (Nava et al., 2013).

Molecular Function

Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Expressed at low level in brain and lung.

External Links

References