NDUFB4
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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