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NDUFS7
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For Research Use Only. Not For Clinical Use.
Background
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Distal tubular cells, Proximal tubular cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). This is a component of the iron-sulfur (IP) fragment of the enzyme (By similarity).
Molecular function
Oxidoreductase, Translocase
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