ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6
Gene ID: 9459, updated on 3-Apr-2024Gene type: protein coding
Also known as: PIXA; COOL2; MRX46; Cool-2; alphaPIX; alpha-PIX
- See all available tests in GTR for this gene
- Go to complete Gene record for ARHGEF6
- Go to Variation Viewer for ARHGEF6 variants
Summary
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]
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-25) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-04-25) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xq26.3
- Sequence:
- Chromosome: X; NC_000023.11 (136665550..136780932, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGEF6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARHGEF6 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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