SCO1

SCO1 is a gene that encodes a protein in humans. It is involved in the assembly of cytochrome c oxidase, a component of the mitochondrial respiratory chain. Mutations in the SCO1 gene can lead to a variety of genetic disorders, including Leigh syndrome and hepatocerebral syndrome.

Function

The SCO1 protein is a copper chaperone, meaning it helps to transport copper ions to the cytochrome c oxidase complex. This is a crucial step in the assembly of the complex, which is responsible for the final step of the mitochondrial respiratory chain. Without proper function of the SCO1 protein, the respiratory chain cannot function properly, leading to a variety of health problems.

Clinical significance

Mutations in the SCO1 gene can lead to a variety of disorders. One of the most common is Leigh syndrome, a severe neurological disorder that typically becomes apparent in the first year of life. Symptoms can include poor growth, loss of motor skills, and progressive neurological decline.

Another disorder associated with SCO1 mutations is hepatocerebral syndrome. This disorder is characterized by progressive liver disease and neurological abnormalities. Symptoms can include liver failure, developmental delay, and a variety of neurological symptoms.

See also

• Cytochrome c oxidase
• Mitochondrial disease
• Leigh syndrome
• Hepatocerebral syndrome