NDUFV2

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa

Identifiers

External IDs

OMIM: 600532 HomoloGene: 10884 GeneCards: NDUFV2 Gene

Gene Ontology
Molecular function	• NADH dehydrogenase activity • NADH dehydrogenase (ubiquinone) activity • NADH dehydrogenase (ubiquinone) activity • electron carrier activity • oxidoreductase activity • metal ion binding • NAD binding • 2 iron, 2 sulfur cluster binding
Cellular component	• mitochondrion • mitochondrial inner membrane • mitochondrial respiratory chain complex I • mitochondrial respiratory chain complex I • mitochondrial respiratory chain complex I • membrane • respiratory chain
Biological process	• mitochondrial electron transport, NADH to ubiquinone • mitochondrial electron transport, NADH to ubiquinone • transport • nervous system development • respiratory electron transport chain • cardiac muscle tissue development
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 18:
9.1 – 9.13 Mb

Chr 17:
66.43 – 66.45 Mb

PubMed search

[1]

[2]

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial is an enzyme that in humans is encoded by the NDUFV2 gene.^[1]^[2]^[3]

References

^ Emahazion T, Beskow A, Gyllensten U, Brookes AJ (Nov 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. doi:10.1159/000015082. PMID 9763677.
^ de Coo R, Buddiger P, Smeets H, Geurts van Kessel A, Morgan-Hughes J, Weghuis DO, Overhauser J, van Oost B (Aug 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. doi:10.1016/0888-7543(95)80163-G. PMID 7607668.
^ "Entrez Gene: NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4729.

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. doi:10.1021/bi00434a021. 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. doi:10.1006/bbrc.1995.2688. PMID 7488192.
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.
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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
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.

NDUFV2

References

Further reading