Entrez gene ID | | 4695 |
Official gene symbol | | NDUFA2 |
Full name | | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa |
Aliases | | ,B8,CD14, |
Gene summary | | The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants. |
Location | | Chromosome: 5 Locus: 5q31 |
Gene position | | 140027370 - 140024948 Map Viewer |
Gene orientation | | minus |
Gene size | | 2423 bp |
Gene sequence |
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OMIM ID | | 602137 |
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