Entrez gene ID | | 9095 |
Official gene symbol | | TBX19 |
Full name | | T-box 19 |
Aliases | | ,FLJ26302,FLJ34543,TBS19,TPIT,dJ747L4.1, |
Gene summary | | 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. Mutations in this gene 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. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q24.2 |
Gene position | | 168250278 - 168283664 Map Viewer |
Gene orientation | | plus |
Gene size | | 33387 bp |
Gene sequence |
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OMIM ID | | 604614 |
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