Details for Gene TTC8

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 OLI059; OLI145; OLI325; OLI623; OLI146; OLI140; OLI1661; OLI1146
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

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