Ndufs4 ist ein Gen, das durch das Symbol NDUFS4 kodiert wird. Im Allgemeinen auch bezeichnet als: 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 hat eine Masse von 20.11kDa, eine Aminosäurelänge von 175, und ist an Mitochondrial complex I deficiency, nuclear type 1 beteiligt.
Wir bieten 8 antikörper gegen Ndufs4, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the complex I NDUFS4 subunit family.
Zellort
Mitochondrion inner membrane.
