COX16
Function
Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136, PubMed:33169484). Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2) (PubMed:29355485, PubMed:29381136). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6 (PubMed:29381136). Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines (PubMed:29381136).
Involvement in disease
Mitochondrial complex IV deficiency, nuclear type 22
MC4DN22
An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis, and isolated complex IV deficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the COX16 family.
Tissue Specificity
Widely expressed. Expressed at higher level in skeletal muscle, heart and liver.
Cellular localization
- Mitochondrion inner membrane
- Single-pass membrane protein
Alternative names
C14orf112, HSPC203, PTD019, COX16, hCOX16