FOXRED1
FOXRED1 (FAD-dependent oxidoreductase domain containing 1) is a protein that in humans is encoded by the FOXRED1 gene. This protein is involved in the assembly of complex I of the mitochondrial respiratory chain, which is the first step in the electron transport chain that generates adenosine triphosphate (ATP).
Function[edit | edit source]
The FOXRED1 gene encodes a protein that is localized to the mitochondria and may play a role in the assembly of mitochondrial complex I. This protein contains a conserved FAD-dependent oxidoreductase domain, which suggests that it functions as an oxidoreductase.
Clinical significance[edit | edit source]
Mutations in the FOXRED1 gene have been associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of clinical manifestations, including Leigh syndrome, Leber's hereditary optic neuropathy, and cardiomyopathy.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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