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This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)