NDUFB4

Ideogram human chromosome 3

NDUFB4

NDUFB4 is a gene that encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is a multi-subunit enzyme complex located in the inner mitochondrial membrane. This complex plays a crucial role in the electron transport chain, which is essential for generating adenosine triphosphate (ATP) in aerobic respiration.

Structure

The NDUFB4 gene is located on chromosome Chromosome 8 in humans. It consists of amino acids and is a part of the larger complex I enzyme, which is composed of multiple subunits that work together to transfer electrons from NADH to ubiquinone.

Function

NDUFB4 is involved in the assembly and stabilization of complex I, which is the first and largest enzyme complex in the electron transport chain. This complex plays a vital role in the generation of ATP, the energy currency of the cell.

Clinical Significance

Mutations in the NDUFB4 gene have been associated with mitochondrial disorders and respiratory chain deficiencies. These conditions can lead to a variety of symptoms, including muscle weakness, neurological problems, and metabolic abnormalities.

References

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