ARHGAP6 Chromosome X
Rho GTPase activating protein 6
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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 actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Rho GTPase activating proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000047648
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144462941 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376163184 | Health Risk | Conflicting classifications of pathogenicity | — |