Three rare and potentially damaging de novo missense variants in the ARF3 gene were identified in ASD probands from the SPARK cohort (Feliciano et al., 2019; Zhou 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 ARF3 as an ASD-associated gene with a false discovery rate (FDR) < 0.1. De novo missense variants in ARF3 have also been shown to cause a neurodevelopmental syndrome characterized by developmental delay/intellectual disability, epilepsy, and brain abnormalities (Sakamoto et al., 2021; Fasano et al., 2022).
Molecular Function
GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
