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Chromosome 20 open reading frame 7

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. [provided by RefSeq, Oct 2009] (from NCBI)
Papers on C20orf7
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
Elpeleg et al., Jerusalem, Israel. In J Inherit Metab Dis, 2012
analysis of the combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Smeets et al., Maastricht, Netherlands. In J Med Genet, 2010
A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations.
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Thorburn et al., Melbourne, Australia. In Am J Hum Genet, 2008
C20orf7 is crucial in the assembly of complex I and mutations in C20orf7 cause mitochondrial disease
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