NIPBL wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NIPBL wild-type allele is located in the vicinity of 5p13.2 and is approximately 189 kb in length. This allele, which encodes nipped-B-like protein, plays a role in the mediation of both limb development and cartilage formation. Mutations in the gene are associated with Cornelia de Lange syndrome.

**Synonyms:** - CDLS - CDLS1 - DELANGIN - DKFZp434L1319 - FLJ11203 - FLJ12597 - FLJ13354 - FLJ13648 - FLJ44854 - IDN3 - IDN3-B - Nipped-B Homolog (Drosophila) wt Allele