Species Human Entrez 9095 | Human Mouse Ensembl ENSG00000143178 | |
Aliases TBX19, TBS19, TPIT, dJ747L4.1, T-box 19 External IDs OMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19 | ||
T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.
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. This gene is the human ortholog of mouse Tbx19/Tpit gene. Studies in mouse show that Tpit protein is present only in the two pituitary pro-opiomelanocortin (POMC)-expressing lineages, the corticotrophs and melanotrophs.
The Tpit gene is responsible for a neonatal form of acth deficiency and hypocortisolism.
Mutations in the human ortholog 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.