Gene: FOXRED1
Alternate names for this Gene: FP634|H17|MC1DN19
Gene Summary: This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene.
Gene is located in Chromosome: 11
Location in Chromosome : 11q24.2
Description of this Gene: FAD dependent oxidoreductase domain containing 1
Type of Gene: protein-coding
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.
rs398124308 in
FOXRED1 gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY
PMID 22200994 2012 Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
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.