NDUFAF7

NDUFAF7 is a protein that in humans is encoded by the NDUFAF7 gene. It is a member of the Complex I Assembly (CIA) factors involved in the assembly of mitochondrial respiratory chain complex I. Mutations in this gene have been associated with Mitochondrial Complex I Deficiency, a disorder that causes a wide variety of clinical manifestations, including neurological, cardiac, and liver diseases.

Function

NDUFAF7 is a methyltransferase that is involved in the assembly of mitochondrial complex I. It is thought to have a role in the methylation of the 42kDa subunit of complex I and is required for the incorporation of the 42kDa subunit into the complex. The protein is localized in the mitochondrion and is believed to function in the mitochondrial matrix.

Clinical significance

Mutations in the NDUFAF7 gene have been associated with mitochondrial complex I deficiency. This is a disorder characterized by a wide variety of clinical manifestations. Symptoms can range from lethargy, poor muscle tone, and developmental delay, to more severe complications such as encephalopathy, cardiomyopathy, and liver disease. The severity of the disorder can vary greatly, with some individuals experiencing only mild symptoms, while others may have severe, life-threatening complications.

Research

Research into NDUFAF7 and its role in mitochondrial complex I assembly is ongoing. Understanding the function of this protein and how mutations in the gene affect the assembly of complex I could lead to new treatments for mitochondrial complex I deficiency and other related disorders.

See also

• Mitochondrial disease
• Mitochondrial DNA
• Mitochondrial respiratory chain