DCLRE1C DNA cross-link repair 1C
Gene ID: 64421, updated on 2-Nov-2024Gene type: protein coding
Also known as: SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C
- See all available tests in GTR for this gene
- Go to complete Gene record for DCLRE1C
- Go to Variation Viewer for DCLRE1C variants
Summary
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Histiocytic medullary reticulosis | not available |
| Severe combined immunodeficiency due to DCLRE1C deficiency | not available |
Genomic context
- Location:
- 10p13
- Sequence:
- Chromosome: 10; NC_000010.11 (14897359..14954432, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DCLRE1C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DCLRE1C database
- DCLRE1Cbase: Mutation registry for Artemis deficiency
- 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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