NDUFB9 / Unconjugated /
Product Details
Description | LYRM3, also known as NADH dehydrogenase (ubiquinone) 1 beta subcomplex 9 (NDUFB9), is a ubiquitously expressed LYR-motif containing protein. It has been suggested to be a candidate gene for the branchio-oto-renal (BOR) syndrome, which is characterized by branchial and renal abnormalities and heredity deafness disorders. Other than its LYR-motif, LYRM3 appears to have no functional or structural relationship to either LYRM1 or LYRM2. | |
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Conjugate | Unconjugated | |
Clone | ||
Target Species | Human, Mouse, Rat | |
Applications | ELISA, WB, IHC | |
Supplier | Aviva Systems Biology | |
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About NDUFB9
The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
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