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Immunogen sequence: MELVQVLKR GLQQITGHGG LRGYLRVFFR TNDAKVGTLV GEDKYGNKYY EDNKQFFGRH RWVVYTTEMN GKNTFWDVDG SMVPPEWHRW LHSMTDDPPT TKPLAARKFI WTNHKFNVTG TPEQYVPYST TRKKIQEWIP PSTPYK (1-145 aa encoded by B C005936)
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.
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Protein Aliases: 13 kDa differentiation-associated protein; 13kDa differentiation-associated protein; CI-B17.2; CIB17.2; complex I B17.2 subunit; Complex I-B17.2; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; NADH-ubiquinone oxidoreductase subunit B17.2
Gene Aliases: 2410011G03Rik; AW112974; B17.2; DAP13; NDUFA12; RGD1311462
UniProt ID: (Human) Q9UI09, (Mouse) Q7TMF3
Entrez Gene ID: (Human) 55967, (Rat) 299739, (Mouse) 66414
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