TBXT, Official Symbol TBXTprovided by HGNC Official Full Name T-box transcription factor Tprovided by HGNC Primary source HGNC:HGNC:11515 See related Ensembl:ENSG00000164458 MIM:601397; AllianceGenome:HGNC:11515 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 T; TFT; SAVA Summary The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018] Expression Low expression observed in reference dataset See more Orthologs all