PPP1R17 protein phosphatase 1 regulatory subunit 17
Gene ID: 10842, updated on 27-Nov-2024Gene type: protein coding
Also known as: GSBS; C7orf16
- See all available tests in GTR for this gene
- Go to complete Gene record for PPP1R17
- Go to Variation Viewer for PPP1R17 variants
Summary
The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hypercholesterolemia, familial, 1 | See labs |
Genomic context
- Location:
- 7p14.3
- Sequence:
- Chromosome: 7; NC_000007.14 (31687215..31708455)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPP1R17 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
- PPP1R17 database
- 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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