GENE NAME | TBX6 |
CHROMOSOME | 16 |
ENSEMBL ID | ENSG00000149922 |
ENTREZ ID | 6911 |
UNIPROT ACCESSION NUMBER | O95947 |
GO MOLECULAR FUNCTION | protein binding; DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
2 combinations linked to TBX6 | OLI336; OLI029 |
2 variants linked to TBX6 | Copy Number Variant deletion on chromosome 16 of the 16p11.2 in the gene TBX6; TBX6:c.499C>T, p.Arg167Cys |
2 diseases linked to TBX6 | Isolated Klippel-Feil syndrome; Müllerian aplasia |