HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
Summary
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3761740 | 5:74,632,133 | C/A | regulatory region variant | — |
| rs4704210 | 5:74,635,225 | G/C | upstream gene variant | — |
| rs10045497 | 5:74,636,484 | C/A | regulatory region variant | — |
| rs10038095 | 5:74,637,711 | A/C | — | — |
| rs760814083 | 5:74,638,562 | T/C | — | likely benign |
| rs3843482 | 5:74,639,259 | T/A | — | — |
| rs758983271 | 5:74,640,082 | T/A | — | uncertain significance |
| rs2478743697 | 5:74,640,161 | A/G | — | pathogenic |
| rs2878419 | 5:74,640,490 | C/T | intron variant | — |
| rs781639869 | 5:74,641,440 | G/A | — | uncertain significance |
| rs2303152 | 5:74,641,707 | G/A | intron variant | — |
| rs17244834 | 5:74,642,848 | A/T | intron variant | — |
| rs17244841 | 5:74,642,855 | A/T | intron variant | association |
| rs754097995 | 5:74,643,089 | G/A | — | uncertain significance |
| rs6453131 | 5:74,644,706 | T/G | intron variant | — |
| rs768419319 | 5:74,645,928 | C/T | — | likely benign |
| rs1055477224 | 5:74,646,616 | T/A | — | likely benign |
| rs144780232 | 5:74,646,663 | C/T | — | uncertain significance |
| rs139776831 | 5:74,646,695 | A/G | — | uncertain significance |
| rs191835914 | 5:74,646,765 | A/C | — | benign |
| rs1299874052 | 5:74,646,898 | T/A | — | uncertain significance |
| rs370386875 | 5:74,646,980 | G/C | — | uncertain significance |
| rs200102303 | 5:74,647,053 | T/C | — | uncertain significance |
| rs2478771548 | 5:74,647,365 | A/G | — | uncertain significance |
| rs951205085 | 5:74,647,386 | C/T | — | uncertain significance |
| rs982576013 | 5:74,647,387 | G/A | — | likely pathogenic |
| rs17238484 | 5:74,648,496 | G/T | intron variant | — |
| rs12654264 | 5:74,648,603 | A/T | intron variant | association |
| rs1227098072 | 5:74,650,518 | C/T | — | uncertain significance |
| rs2478785941 | 5:74,650,908 | A/G | — | uncertain significance |
| rs1760550747 | 5:74,650,958 | T/A | — | uncertain significance |
| rs3846662 | 5:74,651,084 | A/T | — | — |
| rs1228694899 | 5:74,651,260 | G/A | — | uncertain significance |
| rs1417859624 | 5:74,651,266 | G/A | — | conflicting classifications of pathogenicity |
| rs1760562691 | 5:74,651,334 | G/A | — | likely pathogenic |
| rs6882842 | 5:74,651,909 | G/C | — | — |
| rs5908 | 5:74,652,199 | A/G | missense variant | — |
| rs765826468 | 5:74,655,072 | C/T | — | likely benign |
| rs1199407498 | 5:74,655,112 | G/A | — | uncertain significance |
| rs2478802501 | 5:74,655,299 | A/G | — | pathogenic |
| rs2303151 | 5:74,655,451 | C/T | upstream gene variant | drug response |
| rs17238540 | 5:74,655,498 | T/G | upstream gene variant | association |
| rs3846663 | 5:74,655,726 | C/T | upstream gene variant | — |
| rs2478804975 | 5:74,655,817 | G/A | — | pathogenic |
| rs760888650 | 5:74,655,944 | A/C | — | uncertain significance |
| rs5909 | 5:74,656,175 | G/A | — | benign |
| rs12916 | 5:74,656,539 | T/C | upstream gene variant | drug response |
| rs4629571 | 5:74,658,304 | A/G | downstream gene variant | drug response |
Gene information from NCBI Gene. Variant classifications from ClinVar.