Variant: rs387907087 

    present in Gene: FOXRED1
    present in Chromosome: 11
    Position on Chromosome: 126276476
    Alleles of this Variant: C/T

rs387907087 in FOXRED1 gene and Dysmorphic features PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 27215383 2016 A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 20858599 2010 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

rs387907087 in FOXRED1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID 20858599 2010 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

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.