Aliases: P-REX1
Chromosome No: 20
Chromosome Band: 20q13.13
Genetic Category: Genetic association/Rare single gene variant/Functional-Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 2
Evidence score: 3
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Relevance to Autism
Common genetic variants and rare deletions in the PREX1 gene were found to associate with autism in a Han Chinese cohort; PREX1 mRNA levels were also significantly lower in peripheral blood cells from autistic individuals compared to controls (Li et al., 2015). In the same report, genetic deletion or knockdown of PREX1 in the CA1 region of the hippocampus in mice resulted in autism-like social behavior.
Molecular Function
The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins.
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