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Invitrogen
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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: B17.2; DAP13; NDUFA12
UniProt ID: (Human) Q9UI09
Entrez Gene ID: (Human) 55967