TBX19
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| Location (UCSC) | Chr 1: 168.28 – 168.31 Mb | Chr 1: 164.97 – 164.99 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
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
References
- ^ 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.
- PMID 9888994.
- ^ Williams textbook of endocrinology
- ^ "Entrez Gene: TBX19 T-box 19".
Further reading
- Asteria C (2002). "T-box and isolated ACTH deficiency". Eur. J. Endocrinol. 146 (4): 463–5. PMID 11916612.
External links
- TBX19+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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