Gene Symbol | TBX1 |
Entrez Gene ID | 6899 |
Full Name | T-box 1 |
Synonyms | CAFS,CATCH22,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCF,VCFS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3); Velocardiofacial syndrome, 192430 (3); Tetralogy of Fallot, 187500 (3) |