MDH2
Involvement in disease
Developmental and epileptic encephalopathy 51
DEE51
A form of epileptic encephalopathy, a heterogeneous group of severe 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. DEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Acetylation is enhanced by up to 67% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with the appearance of tri- and tetraacetylations. Glucose also increases acetylation by about 60%.
Sequence Similarities
Belongs to the LDH/MDH superfamily. MDH type 1 family.
Cellular localization
- Mitochondrion matrix
Alternative names
MDH2