T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene. [5]
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. [6]
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. [7]
TBX19 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TBX19, TBS19, TPIT, dJ747L4.1, T-box 19, T-box transcription factor 19 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 604614; MGI: 1891158; HomoloGene: 3779; GeneCards: TBX19; OMA: TBX19 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene. [5]
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. [6]
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. [7]