GENE NAME | TTC8 |
CHROMOSOME | 14 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000165533 |
UNIPROT ACCESSION NUMBER | Q8TAM2 |
GO MOLECULAR FUNCTION | ['RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922 |
8 combinations linked to TTC8 | OLI140; OLI146; OLI1146; OLI145; OLI325; OLI623; OLI1661; OLI059 |
7 variants linked to TTC8 | TTC8:c.589_594del, p.187_188delGluTyr; TTC8:c.1011C>G, p.Phe337Leu; TTC8:c.405G>A, p.Met135Ile; TTC8:c.284A>G, p.Lys95Arg; TTC8:c.1253A>G, p.Gln418Arg; TTC8:c.889A>G, p.Asn297Asp; TTC8:c.717del, p.Lys239AsnfsTer4 |
1 disease linked to TTC8 | Bardet-Biedl syndrome |