TBX19 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TBX19 wild-type allele is located in the vicinity of 1q24.2 and is approximately 34 kb in length. This allele, which encodes T-box transcription factor TBX19 protein, plays a role in the activation of POMC gene expression and the repression of CGA and TSHB gene expression. Mutations in this gene are associated with isolated adrenocorticotropic hormone (ACTH) deficiency.

**Synonyms:** - T-Box 19 Gene - T-Box Factor, Pituitary Gene - T-Box Transcription Factor 19 wt Allele - TBS 19 - TBS19 - TPIT - dJ747L4.1