Function
Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH. Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation. Catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species (ROS).
Biological Context
Subcellular Location: Cytoplasm, cytosol
Disease Association: Developmental and epileptic encephalopathy 88 (DEE88) : A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Malate dehydrogenase, Cytoplasmic (MDH1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 2-333aa, with N-terminal GST-tagged tag, molecular weight 63.7kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
