This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
Subcellular Location:
Mitochondrion matrix.
Similarity:
Belongs to the malic enzymes family.
SWISS:
P23368
Gene ID:
4200
Database links:
Entrez Gene: 4200 Human
Entrez Gene: 107029 Mouse
Omim: 154270 Human
SwissProt: P23368 Human
SwissProt: Q99KE1 Mouse
Unigene: 233119 Human
Unigene: 36817 Mouse
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Sample:
K562(Human) Cell Lysate at 40 ug
Primary: Anti-ME2 (SL18753R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 63 kD
Observed band size: 63 kD
Paraformaldehyde-fixed, paraffin embedded (Rat brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (ME2) Polyclonal Antibody, Unconjugated (SL18753R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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