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]
See also
editReferences
edit- ^ a b c GRCh38: Ensembl release 89: ENSG00000143178 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026572 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Yi CH, Terrett JA, Li QY, Ellington K, Packham EA, Armstrong-Buisseret L, McClure P, Slingsby T, Brook JD (Mar 1999). "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. doi:10.1006/geno.1998.5632. PMID 9888994.
- ^ Williams textbook of endocrinology
- ^ "Entrez Gene: TBX19 T-box 19".
Further reading
edit- 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
edit- TBX19+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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