Biology:TBX19
 Generic protein structure example |
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
- ↑ "Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19". Genomics 55 (1): 10–20. Mar 1999. doi:10.1006/geno.1998.5632. PMID 9888994.
- ↑ Williams textbook of endocrinology
- ↑ "Entrez Gene: TBX19 T-box 19". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9095.
Further reading
- Asteria C (2002). "T-box and isolated ACTH deficiency.". Eur. J. Endocrinol. 146 (4): 463–5. doi:10.1530/eje.0.1460463. PMID 11916612.
External links
- TBX19+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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