UniProt Protein Function: | FOXRED1: Defects in FOXRED1 are a cause of mitochondrial complex I deficiency (MT-C1D). 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. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Mitochondrial Chromosomal Location of Human Ortholog: 11q24.2 Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain complex I; mitochondrion Biological Process: mitochondrial respiratory chain complex I assembly Disease: Leigh Syndrome; Mitochondrial Complex I Deficiency |
NCBI 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. [provided by RefSeq, Dec 2010] |
UniProt Code: | Q96CU9 |
NCBI GenInfo Identifier: | 124007188 |
NCBI Gene ID: | 55572 |
NCBI Accession: | Q96CU9.2 |
UniProt Secondary Accession: | Q96CU9,Q71MG0, Q9BU39, Q9UKY9, B3KN84, B4DHU2, |
UniProt Related Accession: | Q96CU9 |
Molecular Weight: | 52,104 Da |
NCBI Full Name: | FAD-dependent oxidoreductase domain-containing protein 1 |
NCBI Synonym Full Names: | FAD dependent oxidoreductase domain containing 1 |
NCBI Official Symbol: | FOXRED1 |
NCBI Official Synonym Symbols: | H17; FP634 |
NCBI Protein Information: | FAD-dependent oxidoreductase domain-containing protein 1 |
UniProt Protein Name: | FAD-dependent oxidoreductase domain-containing protein 1 |
Protein Family: | FAD-dependent oxidoreductase domain-containing protein |
UniProt Gene Name: | FOXRED1 |
UniProt Entry Name: | FXRD1_HUMAN |