Full name: T-box transcription factor T

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: SAVA; T; TFT

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

Gene size: 11000bp

Exon count: 9