TBX19

Chr 1AR

T-box transcription factor 19

Also known as: TBS19, TPIT, dJ747L4.1

NCBI Gene: 9095 ENSG00000143178 UniProt: O60806 OMIM: 604614

TBX19 encodes a T-box transcription factor that activates POMC gene expression and is essential for differentiation of the pituitary POMC lineage. Biallelic mutations cause isolated adrenocorticotropic hormone (ACTH) deficiency, leading to adrenal insufficiency with symptoms including weight loss, anorexia, weakness, nausea, vomiting, and hypotension. The condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…