Suggested antigen retrieval using heat mediated 10 mM Citrate buffer (pH 6.0) or Tris-EDTA buffer (pH 8.0)
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Involvement in disease
Defects in NDUFS2 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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.
Immunofluorescent analysis of HeLa cells labeling mitochondrial NDUFS2 with ab192764 at a 1/500 dilution. HeLa cells were fixed in 2% paraformaldehyde/culture medium at 37 for 30 min. The panel on the right shows the nuclear stain.