Along with other genes, such as Artemis, X-Ray Repair Cross-Complementing Protein 4 (XRCC4), Protein Kinase DNA activated Catalytic Polypeptide (PRKDC), and NHEJ1, encoding V(D)J/NHEJ proteins, it has been found to be deficient in human genetic disorders. This evidence concerns the gene XRCC4 and hereditary disease.