LYRM7

LYRM7 is a gene that encodes the LYR motif-containing protein 7 in humans. This protein is a component of the mitochondrial complex, which plays a crucial role in the electron transport chain and energy production within cells. Mutations in the LYRM7 gene have been associated with mitochondrial complex III deficiency, a rare genetic disorder that can affect multiple systems in the body.

Function

The LYRM7 protein is a member of the LYR motif-containing protein family. These proteins are characterized by the presence of a LYR motif, a short sequence of amino acids that is involved in the binding of iron-sulfur clusters. Iron-sulfur clusters are essential components of many proteins, including those involved in electron transport and energy production.

In the mitochondria, the LYRM7 protein is a component of the mitochondrial complex III (also known as the cytochrome bc1 complex). This complex is part of the electron transport chain, a series of protein complexes in the inner mitochondrial membrane that use electrons from NADH and FADH2 to pump protons across the membrane. This creates a proton gradient that drives the synthesis of ATP, the main energy currency of the cell.

Clinical significance

Mutations in the LYRM7 gene can cause mitochondrial complex III deficiency. This is a rare genetic disorder that can affect multiple systems in the body, including the nervous system, muscles, heart, liver, and others. Symptoms can range from mild to severe and can include growth retardation, muscle weakness, heart disease, liver disease, and neurological problems.

Diagnosis of mitochondrial complex III deficiency is based on clinical symptoms, biochemical testing, and genetic testing. Treatment is supportive and aims to manage symptoms and improve quality of life.

See also

• Mitochondrial disease
• Electron transport chain
• Mitochondrial complex III
• LYR motif

References

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