ARHGAP4 Chromosome X
Rho GTPase activating protein 4
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What This Gene Does
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"F-BAR domain containing|AH/BAR family Rho GTPase activating proteins"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000089820
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781790917 | Health Risk | Conflicting classifications of pathogenicity | — |