Aliases for TBX19 Gene
External Ids for TBX19 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. 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]
GeneCards Summary for TBX19 Gene
TBX19 (T-Box 19) is a Protein Coding gene. Diseases associated with TBX19 include late-onset isolated acth deficiency and adrenocorticotropic hormone deficiency. Among its related pathways are Corticotropin-releasing hormone. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and enhancer sequence-specific DNA binding. An important paralog of this gene is TBX20.
UniProtKB/Swiss-Prot for TBX19 Gene
Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.