GeneID: 440
Names
| Common Name: | ME3 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 11 (NC_000011.10) | Locus: | NM_006680.3 (ME3) |
| HUGO Symbol: | ME3 | Full Name: | malic enzyme 3 |
| Exons: | 15 | Introns: | 14 |
Description:
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 (ME1), a mitochondrial NAD(+)-dependent isoform (ME2), and a mitochondrial NADP(+)-dependent isoform (ME3). Sequence variation in ME3 associated with disease severity in β-thalassaemia/HbE in spite of inconsistent reports of statistical significance.
Synonyms: NADP-ME
Comments:
N/A
Number of entries/variants: 2
Publications / Origin
- Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010