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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. Zusätzlich bieten wir Ihnen Chromosome 20 Open Reading Frame 7 Antikörper (27) und viele weitere Produktgruppen zu diesem Protein an.
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However, similar to another family member, RdmB, it catalyzes the introduction of a hydroxyl group, in the case of NDUFAF5, into Arg-73 in the NDUFS7 (zeige NDUFS7 Proteine) subunit of human complex I
analysis of the combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations.
C20orf7 is crucial in the assembly of complex I and mutations in C20orf7 cause mitochondrial disease
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 a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.
hypothetical protein LOC416742
, hypothetical protein LOC549152
, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
, probable methyltransferase C20orf7, mitochondrial
, probable methyltransferase C20orf7 homolog, mitochondrial