SURF1

SURF1 (SURF1 cytochrome c oxidase assembly factor) is a protein that in humans is encoded by the SURF1 gene. The SURF1 protein is involved in the assembly of the cytochrome c oxidase complex, which is a component of the mitochondrial respiratory chain responsible for the final step of the electron transport chain.

Function

The SURF1 protein is a chaperone protein that assists in the assembly of the cytochrome c oxidase complex. This complex is crucial for the efficient production of adenosine triphosphate (ATP), the main energy source for cellular processes. The SURF1 protein is thought to play a role in the insertion of heme groups into the complex.

Clinical significance

Mutations in the SURF1 gene are associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a few years, usually due to respiratory failure.

Genetics

The SURF1 gene is located on the long (q) arm of chromosome 9 at position 34. The gene spans approximately 8 kilobases and contains 9 exons. The encoded protein is 30 kDa in size and composed of 277 amino acids.

See also

• Leigh syndrome
• Cytochrome c oxidase
• Mitochondrial disease