基因名:
DCLRE1C
产品别名:
A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C; DCLRE1C; DNA cross-link repair 1C; DNA cross-link repair 1C; protein artemis; DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae); SNM1 homolog C; SNM1-like protein; severe combined immunodeficiency, type a (Athabascan); DNA交联修复蛋白1C;
背景信息:
Distinct DNA repair pathways minimize the consequences of mutagenic events. Reactive oxygen species (ROS) are highly reactive atoms with an unpaired electron that are conducive to double-strand DNA breaking events. Artemis, named after the Greek goddess for the protection of children, is one of the major proteins contributing to the preservation of double-strand breaks in DNA by cutting away the damaged parts of the DNA, which allows the strands to rejoin. Artemis is a single-strand-specific 5' to 3' exonuclease that forms a complex with the DNA-dependent protein kinase (DNA-PKcs). DNA-PKcs phosphorylates Artemis, and Artemis acquires endonucleolytic activity on 5' and 3' overhangs and hairpins. These activities are essential for V(D)J recombination and for the 5' and 3' overhang processing in nonhomologous DNA end joining. Mutations in the human Artemis protein result in hypersensitivity to DNA double-strand break-inducing agents and absence of B and T lymphocytes, which is known as "bubble boy" disease or severe combined immunodeficiency disease (SCID). The human Artemis gene maps to chromosome 10p13, and encodes a 577 amino acid protein.