Aliases: AOS1, CDGAP
Chromosome No: 3
Chromosome Band: 3q13.32-q13.33
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
ARHGAP31 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in four independent families.
Molecular Function
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. Heterozygous mutations in ARHGAP31 are associated with Adams-Oliver syndrome-1 (AOS1; OMIM 100300), a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly).
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