| Background: | 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. |
| UniProt Protein Function: | TBX19: Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. Defects in TBX19 are a cause of ACTH deficiency isolated (IAD). ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. |
| UniProt Protein Details: | Protein type:DNA-binding Chromosomal Location of Human Ortholog: 1q24.2 Biological Process: anatomical structure morphogenesis; regulation of transcription from RNA polymerase II promoter Disease: Acth Deficiency, Isolated |
| NCBI 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, Jul 2008] |
| UniProt Code: | O60806 |
| NCBI GenInfo Identifier: | 6226281 |
| NCBI Gene ID: | 9095 |
| NCBI Accession: | O60806.3 |
| UniProt Secondary Accession: | O60806,Q52M53, |
| UniProt Related Accession: | O60806 |
| Molecular Weight: | 48kDa |
| NCBI Full Name: | T-box transcription factor TBX19 |
| NCBI Synonym Full Names: | T-box 19 |
| NCBI Official Symbol: | TBX19 |
| NCBI Official Synonym Symbols: | TPIT; TBS19; dJ747L4.1 |
| NCBI Protein Information: | T-box transcription factor TBX19 |
| UniProt Protein Name: | T-box transcription factor TBX19 |
| UniProt Synonym Protein Names: | T-box factor, pituitary |
| Protein Family: | T-box transcription factor |
| UniProt Gene Name: | TBX19 |
