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DCLRE1CDNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) |
Known also as: SCIDA; SNM1C; A-SCID; hSNM1C; RS-SCID; DCLREC1C; FLJ11360; FLJ36438;
| NCBI Gene ID: | 64421 |
| NCBI Ensembl Id: | ENSG00000152457 |
| MIM Id: (from NCBI OMIM database) | 605988 |
| Species: | Homo sapiens |
| This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA). [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Ma Y, Pannicke U, Schwarz K, Lieber MR | Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. | Cell March 22, 2002 |
| Monsees GM, Kraft P, Chanock SJ, Hunter DJ, Han J | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | Breast Cancer Res Treat May 23, 2010 |
| Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert M, Aldape K, Xing J, Wu X, Wei Q, Bondy ML | Gamma-Radiation Sensitivity and Polymorphisms in RAD51L1 Modulate Glioma Risk. | Carcinogenesis July 7, 2010 |
| Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF | Variation within DNA repair pathway genes and risk of multiple sclerosis. | Am J Epidemiol July 15, 2010 |
Last modification of this entry: Oct. 6, 2010.
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