SCO1 Human

SCO Cytochrome Oxidase Deficient Homolog 1 (SCO1) is a protein encoded by the SCO1 gene in humans. This gene is the human homolog of the yeast SCO1 gene, which is involved in the assembly of cytochrome c oxidase (COX), a crucial enzyme in the mitochondrial respiratory chain. COX catalyzes the transfer of electrons from cytochrome c to molecular oxygen, a process essential for cellular respiration and energy production .

SCO1 plays a critical role in the maturation and stabilization of cytochrome c oxidase subunit II (MT-CO2/COX2). It is involved in the transport of copper to the Cu(A) site on MT-CO2/COX2, which is essential for the enzyme’s proper function. Additionally, SCO1 is important for maintaining copper homeostasis by regulating the abundance and localization of the copper transporter CTR1 .

Mutations in the SCO1 gene are associated with several mitochondrial disorders, including mitochondrial complex IV deficiency, which can lead to severe metabolic and neurological symptoms. These disorders are often characterized by early-onset hepatic failure and fatal infantile cytochrome c oxidase deficiency .

Recombinant human SCO1 protein is widely used in research to study its function and role in mitochondrial diseases. It is typically produced in E. coli and purified for use in various biochemical assays. The recombinant protein is often tagged with a His-tag to facilitate purification and detection .