NDUFB9 est un gène codé par le symbole NDUFB9. Communément appelé aussi: 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 a une masse de 21.83kDa, une longueur d'acide aminé de 179, et est impliqué dans Mitochondrial complex I deficiency, nuclear type 24.
Nous proposons 9 des anticorps contre NDUFB9, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA 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 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.
Résumé Entrez
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the complex I LYR family.
Localisation cellulaire
Mitochondrion inner membrane.
