TWIST1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TWIST1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 16 kb in length. This allele, which encodes twist-related protein 1, plays a role in the regulation of both transcription and cell lineage determination. Mutations in the gene are associated with Saethre-Chotzen, Robinow-Sorauf, and Baller-Gerold syndromes.

**Synonyms:** - ACS3 - BPES2 - BPES3 - SCS - TWIST - Twist Homolog 1 (Acrocephalosyndactyly 3; Saethre-Chotzen Syndrome) (Drosophila) wt Allele