Nibrin

Alternative Names

  • NBN
  • p95 Protein of the MRE11/RAD50 Complex
  • NBS1

Associated Diseases

Breast Cancer
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OMIM Number

602667

NCBI Gene ID

4683

Uniprot ID

O60934

Length

69,898 bases

No. of Exons

20

No. of isoforms

1

Protein Name

Nibrin

Molecular Mass

84959 Da

Amino Acid Count

754

Genomic Location

chr8:89,933,331-90,003,228

Gene Map Locus
8q21.3

Description

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002485.5:c.340G>TLebanonchr8:89980874Uncertain SignificanceBreast CancerNG_008860.1:g.8798G>T; NM_002485.5:c.340G>T; NP_002476.2:p.Val114Phe771034958219644

Other Reports

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified an Emirati patients with pathogenic variants in the NBN gene. An additional Emirati patient was found to have a variant of uncertain significance in the same gene.

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