nibrin
Última actualización 3 Apr 2025
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El NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA.
Normal function
El NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA.
Nibrin interacts with two other proteins, produced from the MRE11A y RAD50 genes, as part of a larger protein complex. Nibrin regulates the activity of this complex by carrying the MRE11A and RAD50 proteins into the cell's nucleus and guiding them to sites of DNA damage. The proteins work together to mend broken strands of DNA. DNA can be damaged by agents such as toxic chemicals or radiation, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division. Repairing DNA prevents cells from accumulating genetic damage that may cause them to die or to divide uncontrollably.
The MRE11A/RAD50/NBN complex interacts with the protein produced from the ATM gene, which plays an essential role in recognizing broken strands of DNA and coordinating their repair. The MRE11A/RAD50/NBN complex helps maintain the stability of a cell's genetic information through its roles in repairing damaged DNA and regulating cell division. Because these functions are critical for preventing the formation of cancerous tumours, nibrin is described as a tumour suppressor.
Conditions referring to this gene or chromosome
Otros nombres
AT-V1
AT-V2
ATV
Cell cycle regulatory protein p95
NBN_HUMAN
NBS
NBS1
Nijmegen breakage syndrome 1
p95 protein of the MRE11/RAD50 complex
Lecturas adicionales y referencias
- nibrin; MedlinePlus, National Library of Medicine.
- Bogdanova N, Feshchenko S, Schurmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dork T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer. 2008 Feb 15;122(4):802-6. doi: 10.1002/ijc.23168.
- Cheung VG, Ewens WJ. Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res. 2006 Aug;16(8):973-9. doi: 10.1101/gr.5320706. Epub 2006 Jun 29.
- Cybulski C, Gorski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojc B, Jakubowska A, Matyjasik J, Zlowocka E, Sikorski A, Narod SA, Lubinski J. NBS1 is a prostate cancer susceptibility gene. Cancer Res. 2004 Feb 15;64(4):1215-9. doi: 10.1158/0008-5472.can-03-2502.
- Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundan T, Mannermaa A, Borresen-Dale AL, Borg A, Barkardottir RB, Petrini J, Winqvist R. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006 Aug;27(8):1593-9. doi: 10.1093/carcin/bgi360. Epub 2006 Feb 12.
- Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. doi: 10.1016/j.dnarep.2004.03.023.
- Kruger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH, Seemanova E, Digweed M. Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis. 2007 Jan;28(1):107-11. doi: 10.1093/carcin/bgl126. Epub 2006 Jul 13.
- Lins S, Kim R, Kruger L, Chrzanowska KH, Seemanova E, Digweed M. Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene. 2009 Nov 1;447(1):12-7. doi: 10.1016/j.gene.2009.07.013. Epub 2009 Jul 25.
- Pluth JM, Yamazaki V, Cooper BA, Rydberg BE, Kirchgessner CU, Cooper PK. DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. DNA Repair (Amst). 2008 Jan 1;7(1):108-18. doi: 10.1016/j.dnarep.2007.08.004. Epub 2007 Oct 4.
- Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, Wisniewska A, Paszko Z. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer. 2006 Jul 15;119(2):472-5. doi: 10.1002/ijc.21853.
- Varon R, Demuth I, Chrzanowska KH. Nijmegen Breakage Syndrome. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1176/
- Zhang Y, Zhou J, Lim CU. The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control. Cell Res. 2006 Jan;16(1):45-54. doi: 10.1038/sj.cr.7310007.
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