TBX19 Proteins

Protein Information

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure.

Synonyms

AU019250; D1Ertd754e; dJ747L4.1; T-box 19; T-box factor, pituitary; T-box protein 19; T-box transcription factor TBX19; TBS 19; TBS19; TBX19; Tpit