TBX19, Official Symbol TBX19provided by HGNC Official Full Name T-box transcription factor 19provided by HGNC Primary source HGNC:HGNC:11596 See related Ensembl:ENSG00000143178 MIM:604614; AllianceGenome:HGNC:11596 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TPIT; TBS19; dJ747L4.1 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] Expression Ubiquitous expression in endometrium (RPKM 1.9), spleen (RPKM 1.2) and 24 other tissues See more Orthologs mouse all