TONSL wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TONSL wild-type allele is located in the vicinity of 8q24.3 and is approximately 16 kb in length. This allele, which encodes tonsoku-like protein, plays a role in the recruitment of DNA repair enzymes to double-strand breaks (DSBs) at stalled or collapsed replication forks. Mutation of the gene is associated with sponastrime type spondyloepimetaphyseal dysplasia.

**Synonyms:** - I-Kappa-B-Related Gene - IKBR - NFKBIL2 - Nuclear Factor of Kappa Light Chain Gene Enhancer in B Cells Inhibitor-Like 2 Gene - Nuclear Factor of Kappa Light Polypeptide Gene Enhancer in B-Cells Inhibitor-Like 2 Gene - SEMDSP - Tonsoku Like, DNA Repair Protein wt Allele