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- Table of Contents
Facts about Nibrin.
RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruitment PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions.
Human | |
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Gene Name: | NBN |
Uniprot: | O60934 |
Entrez: | 4683 |
Belongs to: |
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No superfamily |
ATV; AT-V1; AT-V2; Cell cycle regulatory protein p95; FLJ10155; MGC87362; NBN; Nbs1; NBS1P95; NBSNijmegen breakage syndrome protein 1; Nibrin; Nijmegen breakage syndrome 1 (nibrin); p95 protein of the MRE11/RAD50 complex; p95
Mass (kDA):
84.959 kDA
Human | |
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Location: | 8q21.3 |
Sequence: | 8; NC_000008.11 (89933331..89984724, complement) |
Ubiquitous. Expressed at high levels in testis.
Nucleus. Nucleus, PML body. Chromosome, telomere. Chromosome. Localizes to discrete nuclear foci after treatment with genotoxic agents.
PMID: 9590180 by Varon R., et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
PMID: 9590181 by Carney J.P., et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.