| Protein Name | nibrin |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 4683 |
| Gene Symbol | NBN |
| UniProt | O60934 (NBN_HUMAN), A0A0C4DG07 (A0A0C4DG07_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
703
Total Number of Articles : 537 |
Description |
nibrin |
| 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. [provided by RefSeq, Jul 2008] |
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| Properties | |