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About: NDUFAF1     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:Unit109465459, within Data Space : dbpedia.org associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneyago:Abstraction100002137yago:Chemical114806838yago:Compound114818238yago:Macromolecule114944888yago:Material114580897yago:Matter100020827yago:Molecule114682133yago:OrganicCompound114727670yago:Part113809207yago:PhysicalEntity100001930yago:Protein114728724yago:Relation100031921yago:WikicatHumanProteinsHumanGeneproteinyago:Substance100019613yago:Thing100002452yago:Unit109465459 New Facet based on Instances of this Class

Complex I intermediate-associated protein 30, mitochondrial (CIA30), or NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 (NDUFAF1), is a protein that in humans is encoded by the NDUFAF1 or CIA30 gene. The NDUFAF1 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I. The NDUFAF1 protein is an assembly factor of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variants of the NDUFAF1 gene are associated with hypertrophic cardiomyopathy, leukodystrophy, and cardioencephalomyopathy.