FunctionCore 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 diseaseDefects 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.
Sequence similaritiesBelongs to the complex I 49 kDa subunit family.
All lanes : Anti-NDUFS2 antibody (ab96160) at 1/1000 dilution
Lane 1 : 293T whole cell lysate Lane 2 : A431 whole cell lysate Lane 3 : Jurkat whole cell lysate Lane 4 : Raji whole cell lysate
Lysates/proteins at 30 µg per lane.
Predicted band size : 52 kDa
References for Anti-NDUFS2 antibody (ab96160)
This product has been referenced in:
Kioka H et al. Evaluation of intramitochondrial ATP levels identifies G0/G1 switch gene 2 as a positive regulator of oxidative phosphorylation. Proc Natl Acad Sci U S A111:273-8 (2014).
Read more (PubMed: 24344269) »
Rhein VF et al. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. J Biol Chem288:33016-26 (2013).
Read more (PubMed: 24089531) »