TBX19

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T-box 19
Identifiers
Symbols TBX19 ; TBS19; TPIT; dJ747L4.1
External IDs OMIM604614 MGI1891158 HomoloGene3779 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
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[edit]

References[edit]

  1. ^ 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. 
  2. ^ Williams textbook of endocrinology
  3. ^ "Entrez Gene: TBX19 T-box 19". 

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