DNA cross-link repair 1C (DCLRE1C)

DNA cross-link repair 1C (DCLRE1C), also known as Artemis, is a nuclear enzyme essential for the repair of DNA double-strand breaks and for V(D)J recombination, a process critical for generating diverse antigen receptors on B and T lymphocytes. Artemis possesses endonuclease activity that processes DNA hairpins during immune receptor gene assembly, functioning in complex with the DNA-dependent protein kinase (DNA-PKcs). Mutations in DCLRE1C disrupt lymphocyte development and cause severe combined immunodeficiency (SCID), often associated with extreme sensitivity to ionizing radiation. Deficient individuals typically lack mature B and T lymphocytes and present with life-threatening infections, but milder antibody deficiency or variable immunodeficiency phenotypes are also documented.

Other names

ArtemisSCIDAA-SCIDFLJ11360SNM1CPSO2 homolog (S. cerevisiae)

For therapeutic targeting (gene therapy/transplant): restoration of functional DNA repair and V(D)J recombination in lymphoid cells; not classic small-molecule modulation