ME1
malic enzyme 1
Summary
This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2538323313 | 6:83,921,678 | C/T | — | uncertain significance |
| rs1789897736 | 6:83,921,687 | A/G | — | uncertain significance |
| rs776506743 | 6:83,921,713 | T/A | — | uncertain significance |
| rs1180243 | 6:83,923,716 | G/T | intron variant | — |
| rs367907680 | 6:83,926,300 | C/A | — | uncertain significance |
| rs116402692 | 6:83,933,491 | G/A | — | benign |
| rs748398096 | 6:83,933,552 | G/C | — | uncertain significance |
| rs774491176 | 6:83,933,570 | T/C | — | uncertain significance |
| rs577071729 | 6:83,933,576 | T/G | — | uncertain significance |
| rs183307268 | 6:83,933,609 | G/A | — | uncertain significance |
| rs780950476 | 6:83,937,058 | G/A | — | uncertain significance |
| rs146354044 | 6:83,937,131 | G/A | — | uncertain significance |
| rs140606062 | 6:83,938,610 | T/C | — | uncertain significance |
| rs745631458 | 6:83,938,634 | G/A | — | uncertain significance |
| rs775383665 | 6:83,938,647 | G/A | — | uncertain significance |
| rs747661987 | 6:83,947,466 | C/G | — | uncertain significance |
| rs142932433 | 6:83,947,495 | G/A | — | uncertain significance |
| rs756792249 | 6:83,949,283 | G/A | — | uncertain significance |
| rs1180221 | 6:83,953,276 | C/T | intron variant | — |
| rs267601137 | 6:83,963,402 | G/A | — | uncertain significance |
| rs201444999 | 6:83,963,416 | T/C | — | likely benign |
| rs771409017 | 6:84,025,098 | C/T | — | uncertain significance |
| rs200396179 | 6:84,056,028 | C/A | — | uncertain significance |
| rs45524131 | 6:84,056,175 | T/C | intron variant | — |
| rs6937273 | 6:84,095,513 | A/G | intron variant | — |
| rs185262229 | 6:84,105,136 | T/A | downstream gene variant | — |
| rs367673348 | 6:84,108,095 | C/T | — | uncertain significance |
| rs767868561 | 6:84,108,106 | A/C | — | uncertain significance |
| rs373981488 | 6:84,108,154 | C/T | — | uncertain significance |
| rs766175526 | 6:84,108,163 | C/G | — | uncertain significance |
| rs368880611 | 6:84,108,171 | C/T | — | uncertain significance |
| rs3798890 | 6:84,119,361 | G/A | intron variant | — |
| rs566956678 | 6:84,140,631 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.