FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4 % of human genomic DNA and is considered a gene and disease association dense chromosome.
Synonyms: FAD dependent oxidoreductase domain containing 1, FAD dependent oxidoreductase domain containing protein 1, FAD-dependent oxidoreductase domain-containing protein 1, FOXRED 1, FOXRED1, FP634, FXRD1_HUMAN, H17.