UQCRFS1

UQCRFS1 is a gene that provides instructions for making a protein that is essential for normal function of the mitochondria, the energy-producing centers within cells. This protein is a subunit of an enzyme called complex III or the ubiquinol-cytochrome c reductase complex, which is involved in a critical energy-producing process known as oxidative phosphorylation.

Function

The UQCRFS1 gene encodes a protein that is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein plays an essential role in oxidative phosphorylation, a process that generates energy in the mitochondria.

Clinical significance

Mutations in the UQCRFS1 gene have been associated with mitochondrial complex III deficiency, a disorder that can cause a variety of symptoms, including muscle weakness, exercise intolerance, and heart disease. The severity and specific symptoms can vary widely, even among members of the same family.

See also

• Mitochondrial disease
• Oxidative phosphorylation
• Mitochondrial complex III deficiency

External links

• NCBI Gene
• Genetics Home Reference

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