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 22q11.2 duplication. Among its related pathways are Heart Development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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).