NDUFB9 ist ein Gen, das durch das Symbol NDUFB9 kodiert wird. Im Allgemeinen auch bezeichnet als: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; Complex I-B22; CI-B22; LYR motif-containing protein 3; NADH-ubiquinone oxidoreductase B22 subunit; LYRM3; UQOR22. NDUFB9 hat eine Masse von 21.83kDa, eine Aminosäurelänge von 179, und ist an Mitochondrial complex I deficiency, nuclear type 24 beteiligt.
Wir bieten 9 antikörper gegen NDUFB9, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA 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 to be not 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
The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants.
Rolle bei Krankheiten
Mitochondrial complex I deficiency, nuclear type 24: 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. MC1DN24 transmission pattern is consistent with autosomal recessive inheritance.
Sequenzähnlichkeiten
Belongs to the complex I LYR family.
Zellort
Mitochondrion inner membrane.
