ARHGAP26 Rho GTPase activating protein 26
Gene ID: 23092, updated on 3-Apr-2024Gene type: protein coding
Also known as: GRAF; GRAF1; OPHN1L; OPHN1L1
- See all available tests in GTR for this gene
- Go to complete Gene record for ARHGAP26
- Go to Variation Viewer for ARHGAP26 variants
Summary
Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish. GeneReviews: Not available | |
| Juvenile myelomonocytic leukemia | See labs |
Genomic context
- Location:
- 5q31.3
- Sequence:
- Chromosome: 5; NC_000005.10 (142770377..143229011)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGAP26 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARHGAP26 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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