Details for Gene COG6

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

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