ZNHIT3
Involvement in disease
PEHO syndrome
PEHO
An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe intellectual disability, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
TRIP3, ZNHIT3, Zinc finger HIT domain-containing protein 3, HNF-4a coactivator, Thyroid hormone receptor interactor 3, Thyroid receptor-interacting protein 3, TR-interacting protein 3, TRIP-3