基因名：
NDUFV1
产品别名：
CI-51K； CI51KD； MC1DN4； UQOR1； NDUFV1； NADH:ubiquinone oxidoreductase core subunit V1； NADH:ubiquinone oxidoreductase core subunit V1； NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial； NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa； NADH-ubiquinone oxidoreductase 51 kDa subunit； complex I 51 kda subunit； complex I 51kDa subunit； complex I, mitochondrial respiratory chain； mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1； mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit； NADH脱氢酶黄素蛋白1；
背景信息：
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
