GENE NAME | COG6 |
CHROMOSOME | 13 |
ENSEMBL ID | ENSG00000133103 |
ENTREZ ID | 57511 |
UNIPROT ACCESSION NUMBER | Q9Y2V7 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-199977; R-HSA-597592; R-HSA-392499; R-HSA-6807878; R-HSA-948021; R-HSA-446203; R-HSA-5653656; R-HSA-6811442; R-HSA-6811438; R-HSA-6811440; R-HSA-199991 |
1 combination linked to COG6 | OLI796 |
1 variant linked to COG6 | COG6:c.726del, p.Cys242TrpfsTer7 |
1 disease linked to COG6 | Arthrogryposis syndrome |