Enables NADH dehydrogenase (ubiquinone) activity. Acts upstream of or within several processes, including adult walking behavior; mitochondrial respiratory chain complex I assembly; and nervous system development. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study Leigh disease and mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in Leigh disease and nuclear type mitochondrial complex I deficiency 1. Orthologous to human NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7. [provided by MGI curators]