Gene Symbol | NDUFB3 |
Entrez Gene ID | 4709 |
Full Name | NADH:ubiquinone oxidoreductase subunit B3 |
Synonyms | B12,CI-B12 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex I deficiency, 252010 (3) |