|Aliases||TBX19, TBS19, TPIT, dJ747L4.1, T-box 19|
|External IDs||OMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19|
|Location (UCSC)||Chr 1: 168.28 – 168.31 Mb||Chr 1: 165.14 – 165.16 Mb|
|View/Edit Human||View/Edit Mouse|
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.
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.
- "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".