COQ3
coenzyme Q3, methyltransferase
Summary
Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147609954 | 6:99,817,513 | C/T | — | uncertain significance |
| rs753506803 | 6:99,817,634 | A/T | — | uncertain significance |
| rs761407204 | 6:99,817,635 | A/T | — | uncertain significance |
| rs777542276 | 6:99,817,675 | A/G | — | uncertain significance |
| rs2535823202 | 6:99,817,678 | G/A | — | uncertain significance |
| rs146934336 | 6:99,819,306 | G/A | — | uncertain significance |
| rs137966773 | 6:99,819,393 | G/A | — | uncertain significance |
| rs778904327 | 6:99,819,436 | T/C | — | uncertain significance |
| rs992171205 | 6:99,823,823 | A/G | — | uncertain significance |
| rs145976044 | 6:99,823,838 | T/C | — | uncertain significance |
| rs770554438 | 6:99,823,854 | G/T | — | uncertain significance |
| rs1162069982 | 6:99,823,880 | G/A | — | uncertain significance |
| rs765526353 | 6:99,823,911 | T/C | — | uncertain significance |
| rs138873880 | 6:99,823,941 | C/T | — | likely benign |
| rs1184932038 | 6:99,823,943 | C/T | — | uncertain significance |
| rs142295782 | 6:99,824,005 | G/A | — | likely benign |
| rs1275803684 | 6:99,824,022 | C/G | — | uncertain significance |
| rs553597713 | 6:99,824,040 | C/G | — | uncertain significance |
| rs2535841769 | 6:99,825,347 | T/G | — | uncertain significance |
| rs11548336 | 6:99,825,348 | T/C | missense variant | — |
| rs369360291 | 6:99,831,646 | T/C | — | likely benign |
| rs2535857093 | 6:99,831,684 | C/A | — | uncertain significance |
| rs11154811 | 6:99,836,809 | A/T | — | — |
| rs146414108 | 6:99,841,982 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.