NDUFS3 est un gène codé par le symbole NDUFS3. Communément appelé aussi: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; Complex I-30kD; CI-30kD; NADH-ubiquinone oxidoreductase 30 kDa subunit. NDUFS3 a une masse de 30.24kDa, une longueur d'acide aminé de 264, et est impliqué dans Mitochondrial complex I deficiency, nuclear type 8.
Nous proposons 7 des anticorps contre NDUFS3, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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 (By similarity).
Résumé Entrez
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.
Implication dans la maladie
Mitochondrial complex I deficiency, nuclear type 8: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance.
Similitudes de séquence
Belongs to the complex I 30 kDa subunit family.
Localisation cellulaire
Mitochondrion inner membrane.
