Gene Symbol | NDUFS3 |
Entrez Gene ID | 4722 |
Full Name | NADH:ubiquinone oxidoreductase core subunit S3 |
Synonyms | CI-30 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); Mitochondrial complex I deficiency, 252010 (3) |