TBX19
| TBX19 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | TBX19, TBS19, TPIT, dJ747L4.1, T-box 19 | |||||
| External IDs | OMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19 | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez |
|
|
||||
| Ensembl |
|
|
||||
| UniProt |
|
|
||||
| RefSeq (mRNA) |
|
|
||||
| RefSeq (protein) |
|
|
||||
| Location (UCSC) | Chr 1: 168.28 – 168.31 Mb | Chr 1: 165.14 – 165.16 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse | |||||
T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.[3]
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. [4]
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.[5]
See also[edit]
References[edit]
- ^ "Human PubMed Reference:".
- ^ "Mouse PubMed Reference:".
- ^ 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 US National Library of Medicine Medical Subject Headings (MeSH)
 |
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |
