PET117
Involvement in disease
Mitochondrial complex IV deficiency, nuclear type 19
MC4DN19
An autosomal recessive mitochondrial disorder with onset in infancy or early childhood. MC4DN19 is characterized by global developmental delay, impaired intellectual development, developmental regression, loss of acquired motor and language skills, and motor dysfunction. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PET117 family.
Cellular localization
- Mitochondrion
Alternative names
UNQ607/PRO1194, PET117