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Peptide sequence: VLKRGLQQIT GHGGLRGYLR VFFRTNDAKV GTLVGEDKYG NKYYEDNKQF
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rat: 100%; Sheep: 100%; Yeast: 91%; Zebrafish: 100%
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 13 kDa differentiation-associated protein; CI-B17.2; 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: B17.2; DAP13; NDUFA12
UniProt ID: (Human) Q9UI09
Entrez Gene ID: (Human) 55967
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