The p95 gene (identical to NBS1 and nibrin) is a member of the hMre11/hRad50 double-strand break complex. This protein complex has been implicated in Nijmegen breakage syndrome, an autosomal recessive disorder marked by increased cancer incidence, cell cycle checkpoint deficits, and ionizing radiation sensitivity, thus revealing a direct molecular link between double-strand break repair and cell cycle checkpoint functions.
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Protein Aliases: AT V1; AT V2; Cell cycle regulatory protein p95; FLJ10155; MGC87362; Nibrin; Nijmegen breakage syndrome 1 (nibrin); Nijmegen breakage syndrome protein 1; OTTHUMP00000204088; p95 protein of the MRE11/RAD50 complex; p95-NBS1
Gene Aliases: AT-V1; AT-V2; ATV; NBN; NBS; NBS1; P95
UniProt ID: (Human) O60934
Entrez Gene ID: (Human) 4683