FBXO28
Function
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.
Involvement in disease
Developmental and epileptic encephalopathy 100
DEE100
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. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Chromosome
- Centromere
- Kinetochore
Alternative names
CENP-30, KIAA0483, FBXO28, F-box only protein 28