INPP5K inositol polyphosphate-5-phosphatase K
Gene ID: 51763, updated on 5-Mar-2024Gene type: protein coding
Also known as: PPS; SKIP; MDCCAID
- See all available tests in GTR for this gene
- Go to complete Gene record for INPP5K
- Go to Variation Viewer for INPP5K variants
Summary
This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital muscular dystrophy with cataracts and intellectual disability | not available |
Genomic context
- Location:
- 17p13.3
- Sequence:
- Chromosome: 17; NC_000017.11 (1494577..1516612, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for INPP5K 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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