TCOF1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TCOF1 wild-type allele is located within 5q32-q33.1 and is approximately 43 kb in length. This allele, which encodes treacle protein, may play a fundamental role in early embryonic development, particularly in the development of the craniofacial complex. Mutations in this gene are associated with Treacher Collins syndrome.

**Synonyms:** - MFD1 - Treacher Collins-Franceschetti Syndrome 1 wt Allele - Treacle