Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
rs267606830
in
FOXRED1
gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
PMID 20818383
2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
PMID 25678554
2015 Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.
PMID 20858599
2010 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.