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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TBX1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6899
Official gene symbolTBX1
Full nameT-box 1
Aliases,CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS,
Gene summaryThis 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]
LocationChromosome: 22   Locus: 22q11.21
Gene position19744226 - 19771116  Map Viewer
Gene orientationplus
Gene size26891 bp
Gene sequence
OMIM ID602054