ME3
malic enzyme 3
Summary
Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs776037003 | 11:86,152,476 | C/T | — | uncertain significance |
| rs372905882 | 11:86,153,891 | C/T | — | uncertain significance |
| rs1180614918 | 11:86,153,959 | T/A | — | uncertain significance |
| rs1269960679 | 11:86,157,447 | T/G | — | uncertain significance |
| rs763282991 | 11:86,158,135 | G/A | — | uncertain significance |
| rs747601146 | 11:86,158,187 | C/T | — | uncertain significance |
| rs768809822 | 11:86,158,222 | G/A | — | uncertain significance |
| rs765178055 | 11:86,159,218 | C/A | — | uncertain significance |
| rs141023220 | 11:86,160,989 | G/A | — | uncertain significance |
| rs201690381 | 11:86,161,005 | C/G | — | uncertain significance |
| rs201419210 | 11:86,161,020 | G/A | — | uncertain significance |
| rs144643070 | 11:86,161,345 | C/T | — | uncertain significance |
| rs770484153 | 11:86,161,398 | C/T | — | uncertain significance |
| rs372229031 | 11:86,176,186 | C/T | — | uncertain significance |
| rs757050542 | 11:86,176,201 | T/C | — | uncertain significance |
| rs1870323 | 11:86,188,152 | A/T | — | — |
| rs2496821701 | 11:86,198,442 | T/G | — | uncertain significance |
| rs115220216 | 11:86,209,028 | G/A | — | benign |
| rs201638333 | 11:86,209,051 | G/A | — | uncertain significance |
| rs757475948 | 11:86,219,844 | T/C | — | uncertain significance |
| rs796405142 | 11:86,219,864 | C/T | — | uncertain significance |
| rs1032772618 | 11:86,219,880 | C/T | — | uncertain significance |
| rs12797615 | 11:86,266,683 | T/C | intron variant | — |
| rs74559403 | 11:86,267,711 | G/T | — | uncertain significance |
| rs60024218 | 11:86,310,278 | C/T | intron variant | — |
| rs4500512 | 11:86,311,256 | C/A | — | — |
| rs12288119 | 11:86,320,213 | A/T | — | — |
| rs4439535 | 11:86,326,044 | A/G | intron variant | — |
| rs4944611 | 11:86,337,650 | T/A | — | — |
| rs4944612 | 11:86,338,249 | T/C | downstream gene variant | — |
| rs10792871 | 11:86,368,106 | T/A | — | — |
| rs60229086 | 11:86,379,058 | G/A | intron variant | — |
| rs2496963367 | 11:86,382,875 | G/A | — | uncertain significance |
| rs374173188 | 11:86,382,901 | G/T | — | uncertain significance |
| rs547735437 | 11:86,382,926 | C/T | — | uncertain significance |
| rs760751118 | 11:86,382,959 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.