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TBX1
T-box 1
TBX1 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.
| Gene Name: | T-box 1 |
| Synonyms: | TBX1, DGCR, DORV, DGS, T-box 1, T-box 1 transcription factor C, TBX1C, TGA, CAFS, CTHM, T-box protein 1, Testis-specific T-box protein, VCFS |
| Target Sequences: | NM_005992 NP_005983.1 O43435 |
Publications (3)
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