Protoheme IX farnesyltransferase, mitochondrial
Function
Converts protoheme IX and farnesyl diphosphate to heme O.
Involvement in disease
Mitochondrial complex IV deficiency, nuclear type 3
MC4DN3
An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the UbiA prenyltransferase family.
Cellular localization
- Mitochondrion membrane
- Multi-pass membrane protein
Alternative names
Heme O synthase, COX10