MDH1
Function
Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:2449162, PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237). Catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species (ROS) (PubMed:34012073).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
ISGylated.
Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation.
Sequence Similarities
Belongs to the LDH/MDH superfamily. MDH type 2 family.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
MDHA, MDH1, Aromatic alpha-keto acid reductase, Cytosolic malate dehydrogenase, KAR