TACO1
Function
Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.
Involvement in disease
Mitochondrial complex IV deficiency, nuclear type 8
MC4DN8
An autosomal recessive mitochondrial disorder characterized by slowly progressive cognitive dysfunction, dystonia or visual impairment that appear after an uneventful early childhood. Additional features include gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Brain imaging shows white matter abnormalities in the basal ganglia. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TACO1 family.
Cellular localization
- Mitochondrion
Alternative names
CCDC44, PRO0477, TACO1, Translational activator of cytochrome c oxidase 1, Coiled-coil domain-containing protein 44, Translational activator of mitochondrially-encoded cytochrome c oxidase I