NUBPL Anticuerpo(E-12): sc-137644

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NUBPL (nucleotide-binding protein-like) is a 319 amino acid mitochondrial protein that belongs to the Mrp/NBP35 ATP-binding protein family and exists as two alternatively spliced isoforms. Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I), NUBPL may deliver one or more Fe-S clusters to complex I subunits. With highest expression in liver and kidney, NUBPL is expressed at significant levels in small intestine and brain. Defects in NUBPL are a cause of mitochondrial complex I deficiency (MT-C1D), a disorder of the mitochondrial respiratory chain that causes a wide range of afflictions from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy and some forms of Parkinson disease.