Ndufs4 est un gène codé par le symbole NDUFS4. Communément appelé aussi: 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. Ndufs4 a une masse de 20.11kDa, une longueur d'acide aminé de 175, et est impliqué dans Mitochondrial complex I deficiency, nuclear type 1.
Nous proposons 8 des anticorps contre Ndufs4, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
Résumé Entrez
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.
Implication dans la maladie
Mitochondrial complex I deficiency, nuclear type 1: 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.
Similitudes de séquence
Belongs to the complex I NDUFS4 subunit family.
Localisation cellulaire
Mitochondrion inner membrane.
