TBX19

TBX19 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 TBX19 were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for TBX19 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.

Full Name

TBX19

Function

Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.

Biological Process

Biological Process anatomical structure morphogenesisTAS:ProtInc1 Publication
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process heart morphogenesisIBA:GO_Central1 Publication
Biological Process mesoderm formationIBA:GO_Central1 Publication
Biological Process pituitary gland developmentIEA:Ensembl
Biological Process regulation of cell differentiationIEA:Ensembl
Biological Process regulation of cell population proliferationIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication

Cellular Location

Nucleus

Involvement in disease

ACTH deficiency, isolated (IAD):
An autosomal recessive disorder that 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.