NDUFV2 ist ein Gen, das durch das Symbol NDUFV2 kodiert wird. Im Allgemeinen auch bezeichnet als: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; NADH-ubiquinone oxidoreductase 24 kDa subunit. NDUFV2 hat eine Masse von 27.39kDa, eine Aminosäurelänge von 249, und ist an Mitochondrial complex I deficiency, nuclear type 7 beteiligt.
Wir bieten 8 antikörper gegen NDUFV2, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA 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
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19.
Rolle bei Krankheiten
Mitochondrial complex I deficiency, nuclear type 7: 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. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance.
Sequenzähnlichkeiten
Belongs to the complex I 24 kDa subunit family.
Zellort
Mitochondrion inner membrane.
