PARP1 poly(ADP-ribose) polymerase 1
Gene ID: 142, updated on 14-Nov-2024Gene type: protein coding
Also known as: PARP; PARS; PPOL; ADPRT; ARTD1; ADPRT1; PARP-1; ADPRT 1; pADPRT-1; Poly-PARP
- See all available tests in GTR for this gene
- Go to complete Gene record for PARP1
- Go to Variation Viewer for PARP1 variants
Summary
This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. GeneReviews: Not available |
Genomic context
- Location:
- 1q42.12
- Sequence:
- Chromosome: 1; NC_000001.11 (226360691..226408093, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PARP1 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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