SURF1 : SURF1 cytochrome c oxidase assembly factor

Description

The SURF1 gene provides instructions for making a protein called cytochrome c oxidase assembly factor 1. This protein is crucial for the assembly of cytochrome c oxidase, a key enzyme in the mitochondria. Cytochrome c oxidase acts as the final electron acceptor in the electron transport chain, a vital process for cellular energy production. Mutations in the SURF1 gene can disrupt this assembly process, leading to various health issues.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy
• Hypertrophic cardiomyopathy
• Neurodegeneration

Did you know?

SURF1 gene mutations are often associated with a specific type of Leigh syndrome, known as Leigh syndrome with cytochrome c oxidase deficiency.