| Gene Symbol | NDUFA2 |
| Entrez Gene ID | 4695 |
| Full Name | NADH:ubiquinone oxidoreductase subunit A2 |
| Synonyms | B8,CD14,CIB8 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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.[provided by RefSeq, May 2010]. |
| Disorder MIM: | |
| Disorder Html: | Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) |
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