NBN wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - AT-V1 Gene - AT-V2 Gene - ATV Gene - NBS - NBS1 - Nibrin wt Allele - Nijmegen Breakage Syndrome 1 (Nibrin) Gene - Nijmegen Breakage Syndrome 1 Gene - P95