RGS9 regulator of G protein signaling 9
Gene ID: 8787, updated on 19-Sep-2024Gene type: protein coding
Also known as: PERRS; RGS9L; PERRS1
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- Go to complete Gene record for RGS9
- Go to Variation Viewer for RGS9 variants
Summary
This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Prolonged electroretinal response suppression 1 | not available |
Genomic context
- Location:
- 17q24.1
- Sequence:
- Chromosome: 17; NC_000017.11 (65137370..65227703)
- Total number of exons:
- 19
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for RGS9 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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