ARHGAP21

Chr 10

Rho GTPase activating protein 21

Also known as: ARHGAP10

NCBI Gene: 57584 ENSG00000107863 UniProt: Q5T5U3

ARHGAP21 functions as a GTPase-activating protein (GAP) for CDC42 and RHOA, regulating actin dynamics at the Golgi apparatus and adherens junctions. Mutations cause autosomal recessive intellectual disability with macrocephaly, seizures, and spasticity. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, UniProt

ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]

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

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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