Gene Symbol | NBN |
Entrez Gene ID | 4683 |
Full Name | nibrin |
Synonyms | AT-V1,AT-V2,ATV,NBS,NBS1,P95 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Nijmegen breakage syndrome, 251260 (3); Aplastic anemia, 609135 (3); Leukemia, acute lymphoblastic, 613065 (3) |