GeneID: 440
Names
Common Name: | ME3 | Type: | Gene |
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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
IthaScore
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
A/A | Date | Curator(s) | Comments |
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1 | 2021-07-19 17:52:34 | The IthaGenes Curation Team | Created |