Protein Name T-box transcription factor 1
Organism Homo sapiens
Gene ID 6899
Gene Symbol


UniProt O43435 (TBX1_HUMAN), Q152R5 (Q152R5_HUMAN), D9ZGG0 (D9ZGG0_HUMAN)
Relationships Total Number of functionally related compound(s) : 869
Total Number of Articles : 1153

T-box transcription factor 1

Gene 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. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

  • T-box transcription factor TBX1
  • T-box 1 transcription factor C
  • Testis-specific T-box protein
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