PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1
Gene ID: 57580, updated on 18-Sep-2024Gene type: protein coding
Also known as: P-REX1
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- Go to complete Gene record for PREX1
- Go to Variation Viewer for PREX1 variants
Summary
The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. GeneReviews: Not available | |
| Common variation in GPC5 is associated with acquired nephrotic syndrome. GeneReviews: Not available | |
| Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. GeneReviews: Not available |
Genomic context
- Location:
- 20q13.13
- Sequence:
- Chromosome: 20; NC_000020.11 (48624252..48888185, complement)
- Total number of exons:
- 44
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PREX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- Variation ViewerRelated Variants
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