NDUFV2

From Wikipedia, the free encyclopedia

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa

Identifiers

External IDs

Gene ontology
Molecular Function:	• NADH dehydrogenase activity • iron ion binding • NADH dehydrogenase (ubiquinone) activity • metal ion binding • 2 iron, 2 sulfur cluster binding
Cellular Component:	• membrane fraction • mitochondrion
Biological Process:	• mitochondrial electron transport, NADH to ubiquinone • nervous system development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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Refseq

NM_021074 (mRNA)
NP_066552 (protein)

n/a (mRNA)
n/a (protein)

Location

Chr 18: 9.09 - 9.12 Mb

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Pubmed search

[1]

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NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa, also known as NDUFV2, is a human gene.^[1]

[edit] References

^ Entrez Gene: NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa.

[edit] Further reading

Pilkington SJ, Walker JE (1989). "Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit.". Biochemistry 28 (8): 3257–64. PMID 2500970.
Hattori N, Suzuki H, Wang Y, et al. (1995). "Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain.". Biochem. Biophys. Res. Commun. 216 (3): 771–7. PMID 7488192.
de Coo R, Buddiger P, Smeets H, et al. (1995). "Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.". Genomics 26 (3): 461–6. PMID 7607668.
Hattori N, Yoshino H, Tanaka M, et al. (1998). "Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease.". Genomics 49 (1): 52–8. doi:10.1006/geno.1997.5192. PMID 9570948.
Emahazion T, Beskow A, Gyllensten U, Brookes AJ (1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.". Cytogenet. Cell Genet. 82 (1-2): 115–9. PMID 9763677.
Loeffen JL, Triepels RH, van den Heuvel LP, et al. (1999). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.". Biochem. Biophys. Res. Commun. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Bénit P, Beugnot R, Chretien D, et al. (2003). "Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.". Hum. Mutat. 21 (6): 582–6. doi:10.1002/humu.10225. PMID 12754703.
Washizuka S, Kakiuchi C, Mori K, et al. (2004). "Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 120 (1): 72–8. doi:10.1002/ajmg.b.20041. PMID 12815743.
Washizuka S, Iwamoto K, Kazuno AA, et al. (2004). "Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees.". Biol. Psychiatry 56 (7): 483–9. doi:10.1016/j.biopsych.2004.07.004. PMID 15450783.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
Washizuka S, Kametani M, Sasaki T, et al. (2006). "Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (3): 301–4. doi:10.1002/ajmg.b.30285. PMID 16508936.