Gene Symbol | NDUFAF6 |
Entrez Gene ID | 137682 |
Full Name | NADH:ubiquinone oxidoreductase complex assembly factor 6 |
Synonyms | C8orf38 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) |