NDUFS3 è un gene codificato dal simbolo NDUFS3. Comunemente indicato anche come: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; Complex I-30kD; CI-30kD; NADH-ubiquinone oxidoreductase 30 kDa subunit. NDUFS3 ha una massa di 30.24kDa, una lunghezza di amminoacidi di 264, ed è implicato in Mitochondrial complex I deficiency, nuclear type 8.
Offriamo 7 anticorpi contro NDUFS3, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the complex I 30 kDa subunit family.
Posizione cellulare
Mitochondrion inner membrane.
