Protein Name | T-box transcription factor 1 |
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Organism | Homo sapiens |
Gene ID | 6899 |
Gene Symbol | TBX1 |
UniProt | O43435 (TBX1_HUMAN), Q152R5 (Q152R5_HUMAN), D9ZGG0 (D9ZGG0_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
869
Total Number of Articles : 1153 |
Description |
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] |
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