ARHGEF6 Chromosome X
Rac/Cdc42 guanine nucleotide exchange factor 6
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What This Gene Does
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
Xq26.3
Ensembl
ENSG00000129675
Associated Conditions (4)
History of neurodevelopmental disorder
Intellectual disability
X-linked 46
ARHGEF6-related disorder
Key Variants
RS147131853
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, Intellectual disability, X-linked 46
Health Risk
RS149768069
Conflicting classifications of pathogenicity
Health Risk
RS75329154
Conflicting classifications of pathogenicity
ARHGEF6-related disorder, ARHGEF6-related disorder
Health Risk
RS938254089
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147131853 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, Intellectual disability, X-linked 46 |
| RS149768069 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75329154 | Health Risk | Conflicting classifications of pathogenicity | ARHGEF6-related disorder, ARHGEF6-related disorder |
| RS938254089 | Health Risk | Conflicting classifications of pathogenicity | — |