TBX19

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]

Description

T-box transcription factor 19

Tissue specificity

Tissue enriched (pituitary gland)

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

1 (168280877 - 168314426)

Ensembl ID

ENSG00000143178  (ver. 103.38)

Orthologs

Mouse Tbx19: ENSMUSG00000026572

UniProt

O60806

neXtProt

NX_O60806

Human splice variants
Mouse splice variants

Protein structure