TBX19 gene

T-box 19

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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

From NCBI Gene:

  • ACTH deficiency

From UniProt:

ACTH deficiency, isolated (IAD): A 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. [MIM:201400]

Cytogenetic Location: 1q24.2, which is the long (q) arm of chromosome 1 at position 24.2

Molecular Location: base pairs 168,281,040 to 168,314,426 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q24.2, which is the long (q) arm of chromosome 1 at position 24.2
  • dJ747L4.1
  • TBS19
  • TPIT