Entrez gene ID | | 6899 |
Official gene symbol | | TBX1 |
Full name | | T-box 1 |
Aliases | | ,CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS, |
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] |
Location | | Chromosome: 22 Locus: 22q11.21 |
Gene position | | 19744226 - 19771116 Map Viewer |
Gene orientation | | plus |
Gene size | | 26891 bp |
Gene sequence |
| |
OMIM ID | | 602054 |
|