TBX19
Description
The TBX19 (T-box transcription factor 19) is a protein-coding gene located on chromosome 1.
TBX19, encoded by the TBX19 gene, is a member of a conserved family of transcription factors that share a DNA-binding domain called the T-box. These factors play important roles in development. TBX19 is the human equivalent of the mouse Tbx19/Tpit gene. In mice, the Tpit protein is found only in the pituitary corticotrophs and melanotrophs, which produce pro-opiomelanocortin (POMC). Mutations in the TBX19 gene cause a deficiency in POMC-derived ACTH, leading to neonatal ACTH deficiency and hypocortisolism. This suggests that TBX19 is essential for the development of the pituitary POMC lineage.
TBX19 is a transcriptional regulator involved in developmental processes. It activates the expression of the POMC gene and represses the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.
TBX19 is also known as TBS19, TPIT, dJ747L4.1.
