GENE NAME | COG1 |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000166685 |
ENTREZ ID | 9382 |
UNIPROT ACCESSION NUMBER | Q8WTW3 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-6807878; R-HSA-948021; R-HSA-446203; R-HSA-5653656; R-HSA-6811442; R-HSA-6811438; R-HSA-6811440; R-HSA-199991; R-HSA-199977; R-HSA-597592; R-HSA-392499 |
1 combination linked to COG1 | OLI340 |
1 variant linked to COG1 | COG1:c.739C>T, p.His247Tyr |
1 disease linked to COG1 | Isolated Klippel-Feil syndrome |