NDUFA3
NDUFA3 is a protein that in humans is encoded by the NDUFA3 gene. The NDUFA3 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.
Function[edit | edit source]
The NADH dehydrogenase complex, also known as Complex I, is the first enzyme complex in the electron transport chain. It plays a crucial role in cellular respiration, the process that generates ATP, the cell's main source of energy. The NDUFA3 protein is one of about 40 subunits that make up the NADH dehydrogenase complex.
Clinical significance[edit | edit source]
Mutations in the NDUFA3 gene have been associated with mitochondrial complex I deficiency, a highly heterogeneous disorder characterized by a wide range of clinical manifestations, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson's disease.
See also[edit | edit source]
References[edit | edit source]
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