ARHGAP32

Chr 11

Rho GTPase activating protein 32

Also known as: GC-GAP, GRIT, PX-RICS, RICS, p200RhoGAP, p250GAP

NCBI Gene: 9743 ENSG00000134909 UniProt: A7KAX9 OMIM: 608541

The protein functions as a GTPase-activating protein that regulates RHOA, CDC42 and RAC1 signaling, controlling dendritic spine morphology and NMDA receptor-dependent actin reorganization in neurons. Mutations cause autosomal dominant intellectual disability with macrocephaly, seizures, and autism spectrum disorder. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted