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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NBN-20-RE | 20 (40 μL) | 200 μL |  |
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| NBN-20-OR | 20 (40 μL) | 200 μL |  |
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| NBN-20-GO | 20 (40 μL) | 200 μL |  |
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| NBN-20-GR | 20 (40 μL) | 200 μL |  |
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| NBN-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : NBN
Gene Name : Nibrin
Chromosome : CHR 8: 899,847,32-899,333,35
Locus : 8q21.3
Alt. Genes : ENAM
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