ARHGAP21 Chromosome 10

Rho GTPase activating protein 21

2 variants 2 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Pleckstrin homology domain containing|Rho GTPase activating proteins|PDZ domain containing"

Locus Type

gene with protein product

Location

10p12.1

Ensembl

ENSG00000107863

Associated Conditions (1)

Abnormal brain morphology

Key Variants

RS140335265

Conflicting classifications of pathogenicity

Health Risk

RS1060499743

Likely pathogenic

Abnormal brain morphology, Abnormal brain morphology

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS140335265	Health Risk	Conflicting classifications of pathogenicity	—
RS1060499743	Health Risk	Likely pathogenic	Abnormal brain morphology, Abnormal brain morphology