TBX18

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Description

The TBX18 (T-box transcription factor 18) is a protein-coding gene located on chromosome 6.

TBX18 plays a crucial role as a transcriptional repressor during development. It influences the formation of various tissues and organs, including the heart and its blood vessels, the ureters, and the spine. It is essential for the proper development of the sinoatrial node (SAN) head area, a key component of the heart's electrical conduction system.

TBX18 is also known as CAKUT2, PUJO.

Associated Diseases

• Congenital anomalies of kidney and urinary tract 2