TBX19
From Wikipedia, the free encyclopedia
T-box 19
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Identifiers | ||||||||||||||
Symbol(s) | TBX19; FLJ26302; FLJ34543; TBS 19; TBS19; TPIT; dJ747L4.1 | |||||||||||||
External IDs | OMIM: 604614 MGI: 1891158 HomoloGene: 3779 | |||||||||||||
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Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 9095 | 83993 | ||||||||||||
Ensembl | n/a | ENSMUSG00000026572 | ||||||||||||
Uniprot | n/a | Q0VBH2 | ||||||||||||
Refseq | NM_005149 (mRNA) NP_005140 (protein) |
NM_032005 (mRNA) NP_114394 (protein) |
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Location | n/a | Chr 1: 166.97 - 167 Mb | ||||||||||||
Pubmed search | [1] | [2] |
T-box 19, also known as TBX19, is a human gene.
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.[1]
[edit] References
[edit] Further reading
- Asteria C (2002). "T-box and isolated ACTH deficiency.". Eur. J. Endocrinol. 146 (4): 463–5. PMID 11916612.