Details for Gene TBX6

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 OLI029; OLI336
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 Müllerian aplasia; Isolated Klippel-Feil syndrome

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