This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants.
Immunogen Information
Immunogen
Full length fusion protein
Swissprot
Q9UI09
Synonyms
13 kDa differentiation associated protein13 kDa differentiation-associated protein2410011G03RikAW112974B17.2CI-B17.2CIB17.2Complex I B17.2Complex I B17.2 subunitComplex I-B17.2DAP13MGC107642MGC7999NADH dehydrogenase (ubiquinone) 1 alpha subco