Aliases for TBX1 Gene
External Ids for TBX1 Gene
Previous HGNC Symbols for TBX1 Gene
Previous GeneCards Identifiers for TBX1 Gene
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]
GeneCards Summary for TBX1 Gene
TBX1 (T-Box 1) is a Protein Coding gene. Diseases associated with TBX1 include Velocardiofacial Syndrome and Digeorge Syndrome. Among its related pathways are Heart Development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is TBX20.
UniProtKB/Swiss-Prot for TBX1 Gene
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).