Gene: NBN

Alternate names for this Gene: AT-V1|AT-V2|ATV|NBS|NBS1|P95

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.3

Description of this Gene: nibrin

Type of Gene: protein-coding

Gene: OSGIN2

Alternate names for this Gene: C8orf1|hT41

Gene Summary:

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.3

Description of this Gene: oxidative stress induced growth inhibitor family member 2

Type of Gene: protein-coding

rs767094704 in NBN;OSGIN2 gene and Nijmegen Breakage Syndrome PMID 15758953 2005 Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage.