Anti-NDUFS3 Antibody Picoband® APC Conjugated

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I) . Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.

NDUFS3; NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; EC 1.6.99.3; EC 7.1.1.2; Complex I-30kD; CI-30kD; NADH-ubiquinone oxidoreductase 30 kDa subunit

1. Benit, P., Slama, A., Cartault, F., Giurgea, I., Chretien, D., Lebon, S., Marsac, C., Munnich, A., Rotig, A., Rustin, P. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J. Med. Genet. 41: 14-17, 2004. 2. Emahazion, T., Beskow, A., Gyllensten, U., Brookes, A. J. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. Cytogenet. Cell Genet. 82: 115-119, 1998. 3. Haack, T. B., Haberberger, B., Frisch, E.-M., Wieland, T., Iuso, A., Gorza, M., Strecker, V., Graf, E., Mayr, J. A., Herberg, U., Hennermann, J. B., Klopstock, T., and 16 others. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49: 277-283, 2012.