ARHGAP31

Chr 3

Rho GTPase activating protein 31

Also known as: AOS, AOS1, CDGAP

NCBI Gene: 57514 ENSG00000031081 UniProt: Q2M1Z3

The protein functions as a GTPase-activating protein that regulates RAC1 and CDC42, controlling cell spreading, lamellipodia formation, and cell migration. Mutations cause Adams-Oliver syndrome 1, characterized by congenital scalp defects and limb malformations, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAdams-Oliver syndrome 1

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429