FAD Dependent Oxidoreductase Domain Containing Protein 1 (FOXRED1)

Using PCR, high-throughput sequencing, and database analysis to identify genes mutated in patients diagnosed with complex I deficiency, Calvo et al. (2010) identified NUBP1 and FOXRED1.The deduced FOXRED1 protein contains a putative FAD-dependent oxidoreductase domain. Calvo et al. (2010) determined that the FOXRED1 gene contains 11 exons.Hartz (2010) mapped the FOXRED1 gene to chromosome 11q24.2 based on an alignment of the FOXRED1 sequence with the genomic sequence.In a patient with mitochondrial complex I deficiency and Leigh syndrome, Calvo et al. (2010) identified compound heterozygosity for 2 mutations in the FOXRED1 gene.