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NDUFA11 encodes a subunit of the membrane-bound mitochondrial complex I.
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study identified a splice-site mutation in the NDUFA11 gene in six mitochondrial complex I deficiency patients from three unrelated families
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.
, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11
, NADH-ubiquinone oxidoreductase subunit B14.7
, complex I-B14.7
, complex I B14.7 subunit
, mitochondrial NADH:ubiquinone oxidoreductase B14.7
, Complex I-B14.7
, mitochondrial complex I subunit NDUFA11