GENE NAME | TBCE |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000284770 |
ENTREZ ID | 6905 |
UNIPROT ACCESSION NUMBER | Q15813 |
GO MOLECULAR FUNCTION | alpha-tubulin binding; protein binding; chaperone binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-391251; R-HSA-389977; R-HSA-392499 |
1 combination linked to TBCE | OLI1150 |
2 variants linked to TBCE | TBCE:c.661G>C, p.Val221Leu; TBCE:c.1537C>T, p.Gln513Ter |
1 disease linked to TBCE | Hereditary spastic paraplegia |