Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

TBX1

Gene Alias

CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS

Gene Description

T-box 1

Omim ID

Gene Ontology

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

Other Designations

T-box 1 transcription factor C|Testis-specific T-box protein|brachyury