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Gene : NDUFV1 Homo sapiens

Name  ? NADH:ubiquinone oxidoreductase core subunit V1 Cytological Location  11q13.2
Brief Description  NADH:ubiquinone oxidoreductase core subunit V1
Description  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]
  • synonyms:
  • NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD),
  • uc001omj.3,
  • NM_007103,
  • UQOR1,
  • CI-51K,
  • NDUFV1,
  • NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,
  • MC1DN4,
  • NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial,
  • AF092131,
  • HGNC:7716,
  • CI-51K,
  • CI51KD,
  • complex I 51kDa subunit,
  • OTTHUMG00000166215
  • identifiers:
  • 4723,
  • ENSG00000167792,
  • NDUFV1

Genome feature

Region: gene ? Length: 5619  
Location: 11:67606936-67612554 Cyto location: 11q13.2


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1 Diseases

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3756 SN Ps

5 Cross References

19 Data Sets

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0 Located Features

97 Rna Seq Results