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NM_005149

NM_032005

RefSeq (protein)

NP_005140

NP_114394

Location (UCSC) Chr 1: 168.28 – 168.31 Mb Chr 1: 165.14 – 165.16 Mb PubMed search [3] [4] Wikidata
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T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene.[5]

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. [6]

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.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143178 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026572 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ Williams textbook of endocrinology
  7. ^ "Entrez Gene: TBX19 T-box 19". 

Further reading

External links