PPP1R13L protein phosphatase 1 regulatory subunit 13 like
Gene ID: 10848, updated on 3-Nov-2024Gene type: protein coding
Also known as: RAI; RAI4; ARCME; CMAEA; IASPP; NKIP1
- See all available tests in GTR for this gene
- Go to complete Gene record for PPP1R13L
- Go to Variation Viewer for PPP1R13L variants
Summary
IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | not available |
Genomic context
- Location:
- 19q13.32
- Sequence:
- Chromosome: 19; NC_000019.10 (45379638..45406361, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPP1R13L 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
- 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.