OXR1
Function
May be involved in protection from oxidative damage.
Involvement in disease
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
CHEGDD
An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the OXR1 family.
Cellular localization
- Mitochondrion
Alternative names
Nbla00307, OXR1, Oxidation resistance protein 1