XRCC4 X-ray repair cross complementing 4
Gene ID: 7518, updated on 5-Mar-2024Gene type: protein coding
Also known as: SSMED; hXRCC4
- See all available tests in GTR for this gene
- Go to complete Gene record for XRCC4
- Go to Variation Viewer for XRCC4 variants
Summary
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. GeneReviews: Not available | |
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. GeneReviews: Not available | |
Short stature, microcephaly, and endocrine dysfunction | See labs |
Two-marker association tests yield new disease associations for coronary artery disease and hypertension. GeneReviews: Not available |
Genomic context
- Location:
- 5q14.2
- Sequence:
- Chromosome: 5; NC_000005.10 (83077547..83374473)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for XRCC4 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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