Health / Medical Topics |
NBN wt Allele
Human NBN wild-type allele is located within 8q21 and is approximately 51 kb in length. This allele, which encodes nibrin protein, is involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Functional mutations in the NBN gene produce allelic variants that are involved in Nijmegen breakage syndrome. (NCI Thesaurus)
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