MAST3
Involvement in disease
Developmental and epileptic encephalopathy 108
DEE108
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. DEE108 is an autosomal dominant form characterized by the onset of multiple types of seizures in the first 2 years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
Cellular localization
- Cytoplasm
Alternative names
KIAA0561, MAST3, Microtubule-associated serine/threonine-protein kinase 3