Anti-NDUFS4 Antibody Picoband® Fluoro594 Conjugated

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase) . Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants.

NDUFS4; NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; Complex I-18 kDa; CI-18 kDa; Complex I-AQDQ; CI-AQDQ; NADH-ubiquinone oxidoreductase 18 kDa subunit

E.coli-derived human NDUFS4 recombinant protein (Position: R29-K175) . Human NDUFS4shares 91.8% and 90.5% amino acid (aa) sequence identity with mouse and rat NDUFS4, respectively.

1. Anderson, S. L., Chung, W. K., Frezzo, J., Papp, J. C., Ekstein, J., DiMauro, S., Rubin, B. Y. A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. J. Inherit. Metab. Dis. 31: S461-S467, 2008. 2. Assereto, S., Robbiano, A., Di Rocco, M., Rossi, A., Cassandrini, D., Panicucci, C., Brigati, G., Biancheri, R., Bruno, C., Minetti, C., Trucks, H., Sander, T., Zara, F., Gazzerro, E. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. (Letter) Clin. Genet. 86: 99-101, 2014. 3. Benit, P., Steffann, J., Lebon, S., Chretien, D., Kadhom, N., de Lonlay, P., Goldenberg, A., Dumez, Y., Dommergues, M., Rustin, P., Munnich, A., Rotig, A. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. Hum. Genet. 112: 563-566, 2003.