EXO5 exonuclease 5
Gene ID: 64789, updated on 2-Nov-2024Gene type: protein coding
Also known as: DEM1; Exo V; hExo5; C1orf176
- See all available tests in GTR for this gene
- Go to complete Gene record for EXO5
- Go to Variation Viewer for EXO5 variants
Summary
The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-02) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (40508767..40516038)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EXO5 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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