NDUFB7
NDUFB7 is a protein that in humans is encoded by the NDUFB7 gene. The 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]
NDUFB7 is an accessory subunit of the NADH:ubiquinone oxidoreductase (complex I) that is believed to be involved in the transfer of electrons from NADH to ubiquinone. Complex I is the first enzyme complex in the electron transport chain of mitochondria, which serves as the site of oxidative phosphorylation in eukaryotes.
Clinical significance[edit | edit source]
Mutations in the NDUFB7 gene are associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of clinical disorders, including Leigh syndrome, Leber's hereditary optic neuropathy, and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
See also[edit | edit source]
References[edit | edit source]
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