LIG4 DNA ligase 4
Gene ID: 3981, updated on 16-Apr-2024Gene type: protein coding
Also known as: LIG4S
- See all available tests in GTR for this gene
- Go to complete Gene record for LIG4
- Go to Variation Viewer for LIG4 variants
Summary
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. GeneReviews: Not available | |
| DNA ligase IV deficiency | See labs |
| Multiple myeloma | See labs |
Genomic context
- Location:
- 13q33.3
- Sequence:
- Chromosome: 13; NC_000013.11 (108207442..108218349, 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 LIG4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LIG4 database
- LIG4base: Mutation registry for LIG4 syndrome
- 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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