Gene Symbol | NDUFA2 |
Entrez Gene ID | 4695 |
Full Name | NADH:ubiquinone oxidoreductase subunit A2 |
Synonyms | B8,CD14,CIB8 |
General protein information |
|
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) |