TBX19

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T-box 19
Identifiers
Symbol(s) TBX19; FLJ26302; FLJ34543; TBS 19; TBS19; TPIT; dJ747L4.1
External IDs OMIM: 604614 MGI1891158 HomoloGene3779
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)
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.