TBX19
Template:Short description Template:Infobox gene T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.[1]
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. [2]
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.[3]
See also
References
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Further reading
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External links
- Template:Replace at the U.S. National Library of Medicine Medical Subject Headings (MeSH)