PLEKHG5 pleckstrin homology and RhoGEF domain containing G5
Gene ID: 57449, updated on 5-Mar-2024Gene type: protein coding
Also known as: Syx; Tech; DSMA4; HMNR4; CMTRIC; GEF720; ARHGEF45
- See all available tests in GTR for this gene
- Go to complete Gene record for PLEKHG5
- Go to Variation Viewer for PLEKHG5 variants
Summary
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease recessive intermediate C | See labs |
| Common variants at ten loci influence QT interval duration in the QTGEN Study. GeneReviews: Not available | |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | See labs |
Genomic context
- Location:
- 1p36.31
- Sequence:
- Chromosome: 1; NC_000001.11 (6467122..6520092, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLEKHG5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IPN Mutations, PLEKHG5
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PLEKHG5 homepage - Leiden Muscular Dystrophy pages
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.