Aliases for TBX18 Gene
External Ids for TBX18 Gene
Previous GeneCards Identifiers for TBX18 Gene
This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
GeneCards Summary for TBX18 Gene
TBX18 (T-Box 18) is a Protein Coding gene. Diseases associated with TBX18 include Pelviureteric Junction Obstruction and Huntington Disease. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is TBX15.
UniProtKB/Swiss-Prot for TBX18 Gene
Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.