APLF aprataxin and PNKP like factor
Gene ID: 200558, updated on 17-Jun-2024Gene type: protein coding
Also known as: APFL; PALF; Xip1; ZCCHH1; C2orf13
- See all available tests in GTR for this gene
- Go to complete Gene record for APLF
- Go to Variation Viewer for APLF variants
Summary
Enables DNA-(apurinic or apyrimidinic site) endonuclease activity; nuclease activity; and nucleotide binding activity. Involved in double-strand break repair via nonhomologous end joining and single strand break repair. Acts upstream of or within positive regulation of DNA ligation. Located in nucleoplasm. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. GeneReviews: Not available |
Genomic context
- Location:
- 2p13.3
- Sequence:
- Chromosome: 2; NC_000002.12 (68467585..68580162)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APLF 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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