GENE NAME | COQ3 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000132423 |
ENTREZ ID | 51805 |
UNIPROT ACCESSION NUMBER | Q9NZJ6 |
GO MOLECULAR FUNCTION | protein binding; transferase activity; 3-demethylubiquinol-10 3-O-methyltransferase activity; 3-demethylubiquinone-9 3-O-methyltransferase activity; 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity; decaprenyldihydroxybenzoate methyltransferase activity; hexaprenyldihydroxybenzoate methyltransferase activity; 3,4-dihydroxy-5-polyprenylbenzoic acid O-methyltransferase activity; methyltransferase activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-2142789; hsa01100; R-HSA-1430728; R-HSA-8978934; hsa01240; R-HSA-196854; hsa00130 |
1 combination linked to COQ3 | OLI727 |
1 variant linked to COQ3 | COQ3:c.496C>T, p.Arg166Trp |
1 disease linked to COQ3 | Isolated anencephaly |