NDUFV2
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| NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | NDUFV2; CI-24k | ||||||||||||
| External IDs | OMIM: 600532 HomoloGene: 10884 GeneCards: NDUFV2 Gene | ||||||||||||
| EC number | 1.6.5.3, 1.6.99.3 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 4729 | 72900 | |||||||||||
| Ensembl | ENSG00000178127 | ENSMUSG00000024099 | |||||||||||
| UniProt | P19404 | Q9D6J6 | |||||||||||
| RefSeq (mRNA) | NM_021074 | NM_028388 | |||||||||||
| RefSeq (protein) | NP_066552 | NP_082664 | |||||||||||
| Location (UCSC) | Chr 18: 9.1 – 9.13 Mb | Chr 17: 66.08 – 66.1 Mb | |||||||||||
| PubMed search | |||||||||||||
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".
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. 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.
- 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.
- 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.
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