PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1
Gene ID: 5366, updated on 23-Mar-2024Gene type: protein coding
Also known as: APR; NOXA
- See all available tests in GTR for this gene
- Go to complete Gene record for PMAIP1
- Go to Variation Viewer for PMAIP1 variants
Summary
This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of the metabolic syndrome in Indian Asian men. GeneReviews: Not available | |
| Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. GeneReviews: Not available | |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. GeneReviews: Not available |
Genomic context
- Location:
- 18q21.32
- Sequence:
- Chromosome: 18; NC_000018.10 (59899996..59904305)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PMAIP1 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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