NDUFAF6

NDUFAF6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is a member of the Complex I Assembly (CIA) factors involved in the assembly of mitochondrial respiratory chain complex I. Mutations in the NDUFAF6 gene have been associated with Mitochondrial Complex I Deficiency, a disorder that affects the nervous system and other parts of the body.

Function

NDUFAF6 is a mitochondrial complex I assembly factor. It is involved in the assembly of the mitochondrial respiratory chain complex I, which is the first and largest enzyme complex in the mitochondrial respiratory chain. It plays a crucial role in cellular respiration, the process by which cells generate energy from nutrients.

Clinical significance

Mutations in the NDUFAF6 gene can cause mitochondrial complex I deficiency, a highly variable disorder characterized by a wide range of clinical manifestations. These can include lethal neonatal disease, adult-onset neuromuscular disease, encephalopathy, cardiomyopathy, Leigh syndrome, and Leber's hereditary optic neuropathy.

Research

Research into NDUFAF6 is ongoing, with studies focusing on understanding the role of this protein in the assembly of the mitochondrial respiratory chain complex I and the implications of its dysfunction in disease.

File:NDUFAF6 protein structure.jpg

Structure of the NDUFAF6 protein

See also

• Mitochondrial disease
• Mitochondrial DNA
• Mitochondrial respiratory chain

References

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