NDUFS3 ist ein Gen, das durch das Symbol NDUFS3 kodiert wird. Im Allgemeinen auch bezeichnet als: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; Complex I-30kD; CI-30kD; NADH-ubiquinone oxidoreductase 30 kDa subunit. NDUFS3 hat eine Masse von 30.24kDa, eine Aminosäurelänge von 264, und ist an Mitochondrial complex I deficiency, nuclear type 8 beteiligt.
Wir bieten 7 antikörper gegen NDUFS3, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the complex I 30 kDa subunit family.
Zellort
Mitochondrion inner membrane.
