Aliases:
Chromosome No: 1
Chromosome Band: 1q23.3
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Chen et al., 2025 integrated cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 non-coding de novo mutations (ncDNMs) in ASD probands from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts and identified a ncDNM that down-regulated expression of the ARHGAP30 gene in a SSC proband. A de novo loss-of-function variant, a de novo missense variant, and a de novo in-frame deletion variant have also been identified in the ARHGAP30 gene in ASD probands (Iossifov et al., 2014; Zhou et al., 2022).
Molecular Function
Enables GTPase activator activity. Involved in negative regulation of Rho protein signal transduction. Located in intracellular membrane-bounded organelle.
External Links
