| GENE NAME | TBX1 |
| CHROMOSOME | 22 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000184058 |
| UNIPROT ACCESSION NUMBER | O43435 |
| GO MOLECULAR FUNCTION | ['sequence-specific DNA binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'protein binding', 'protein homodimerization activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | |
| 1 combination linked to TBX1 | OLI1492 |
| 1 variant linked to TBX1 | TBX1:c.244G>A, p.Ala82Thr |
| 1 disease linked to TBX1 | Congenital hypothyroidism |