GENE NAME | TBCD |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000141556 |
ENTREZ ID | 6904 |
UNIPROT ACCESSION NUMBER | Q9BTW9 |
GO MOLECULAR FUNCTION | GTPase activator activity; protein binding; chaperone binding; beta-tubulin binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-392499; R-HSA-389977; R-HSA-391251 |
1 combination linked to TBCD | OLI929 |
1 variant linked to TBCD | TBCD:c.3365C>T, p.Pro1122Leu |
1 disease linked to TBCD | Transposition of the great arteries |