Aliases:
Chromosome No: 12
Chromosome Band: 12q13.12
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 5
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 2
Evidence score: 2
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Relevance to Autism
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
