The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

Gene Review

NDUFV1  -  NADH dehydrogenase (ubiquinone)...

Homo sapiens

Synonyms: CI-51K, CI-51kD, CI51KD, Complex I-51kD, NADH dehydrogenase flavoprotein 1, ...
 
 

 

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

 

Disease relevance of NDUFV1

 

High impact information on NDUFV1

  • Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy [4].
  • Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency [5].
  • Missense mutations in the human NDUFV1 gene, which encodes the 51 kDa active site subunit of the NADH-ubiquinone oxidoreductase or complex I, can lead to severe neurological disorders [1].
  • Human cDNA fragments of the 51-kDa protein were generated by polymerase chain reaction and used to localize the gene (NDUFV1) for this subunit to 11q13 by two separate techniques [6].
  • The NDUFV1 gene consists of 10 exons [7].
 

Biological context of NDUFV1

References

  1. Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. Grad, L.I., Lemire, B.D. Hum. Mol. Genet. (2004) [Pubmed]
  2. Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? Schuelke, M., Loeffen, J., Mariman, E., Smeitink, J., van den Heuvel, L. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  3. Early-Onset Ophthalmoplegia in Leigh-Like Syndrome Due to NDUFV1 Mutations. Laugel, V., This-Bernd, V., Cormier-Daire, V., Speeg-Schatz, C., de Saint-Martin, A., Fischbach, M. Pediatr. Neurol. (2007) [Pubmed]
  4. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Schuelke, M., Smeitink, J., Mariman, E., Loeffen, J., Plecko, B., Trijbels, F., Stöckler-Ipsiroglu, S., van den Heuvel, L. Nat. Genet. (1999) [Pubmed]
  5. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Bénit, P., Chretien, D., Kadhom, N., de Lonlay-Debeney, P., Cormier-Daire, V., Cabral, A., Peudenier, S., Rustin, P., Munnich, A., Rötig, A. Am. J. Hum. Genet. (2001) [Pubmed]
  6. Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. Ali, S.T., Duncan, A.M., Schappert, K., Heng, H.H., Tsui, L.C., Chow, W., Robinson, B.H. Genomics (1993) [Pubmed]
  7. The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I. de Coo, R.F., Buddiger, P.A., Smeets, H.J., van Oost, B.A. Mamm. Genome (1999) [Pubmed]
 
WikiGenes - Universities