NBN

Also known as AT-V1, AT-V2, ATV, NBS, NBS1, P95, nibrin

Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene.

Gene data

NBN

Name: nibrin
Type: protein-coding
Position: 89,924,515–90,003,228 (−)
Aliases: AT-V1, AT-V2, ATV, NBS, NBS1, P95, hNbs1
Ensembl: ENSG00000104320
RefSeq RNA: NM_001024688.3, NM_001440379.1, NM_001440380.1, NM_002485.5, XM_011517046.2
RefSeq protein: NP_001019859.1, NP_001427308.1, NP_001427309.1, NP_002476.2, XP_011515348.1

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. [provided by RefSeq, Jul 2008].