NTHL1 nth like DNA glycosylase 1
Gene ID: 4913, updated on 11-Apr-2024Gene type: protein coding
Also known as: FAP3; NTH1; OCTS3; hNTH1
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- Go to complete Gene record for NTHL1
- Go to Variation Viewer for NTHL1 variants
Summary
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial adenomatous polyposis 3 | See labs |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (2039820..2047834, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NTHL1 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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