Human Gene FOXRED1 (uc001qdi.3) Description and Page Index
Description: Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_017547): 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. [provided by RefSeq, Dec 2010]. Transcript (Including UTRs) Position: hg19 chr11:126,138,935-126,148,027 Size: 9,093 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr11:126,139,102-126,147,584 Size: 8,483 Coding Exon Count: 11
ID:FXRD1_HUMAN DESCRIPTION: RecName: Full=FAD-dependent oxidoreductase domain-containing protein 1; COFACTOR: FAD (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). DISEASE: Defects in FOXRED1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FOXRED1 CDC HuGE Published Literature: FOXRED1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96CU9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.