T-box 19 | |||
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Identifiers | |||
Symbols | TBX19 ; TBS19; TPIT; dJ747L4.1 | ||
External IDs | OMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19 Gene | ||
Orthologs | |||
Species | Human | Mouse | |
Entrez | 9095 | 83993 | |
Ensembl | ENSG00000143178 | ENSMUSG00000026572 | |
UniProt | O60806 | Q99ME7 | |
RefSeq (mRNA) | NM_005149 | NM_032005 | |
RefSeq (protein) | NP_005140 | NP_114394 | |
Location (UCSC) | Chr 1: 168.25 – 168.28 Mb |
Chr 1: 165.14 – 165.16 Mb |
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PubMed search | [1] | [2] | |
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
- ^ 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
- 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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