NDUFV2

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NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Identifiers
Symbols NDUFV2 ; CI-24k
External IDs OMIM600532 HomoloGene10884 GeneCards: NDUFV2 Gene
EC number 1.6.5.3, 1.6.99.3
RNA expression pattern
PBB GE NDUFV2 202941 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4729 72900
Ensembl ENSG00000178127 ENSMUSG00000024099
UniProt P19404 Q9D6J6
RefSeq (mRNA) NM_021074 NM_001278415
RefSeq (protein) NP_066552 NP_001265344
Location (UCSC) Chr 18:
9.1 – 9.13 Mb
Chr 17:
66.08 – 66.1 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]

Clinical significance[edit]

Mutations in the NDUFV2 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders.[4][5] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible.[6] However, the majority of cases are caused by mutations in nuclear-encoded genes.[7][8] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.[9]

References[edit]

  1. ^ 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". Cytogenetics and Cell Genetics 82 (1-2): 115–9. doi:10.1159/000015082. PMID 9763677. 
  2. ^ de Coo R, Buddiger P, Smeets H, Geurts van Kessel A, Morgan-Hughes J, Weghuis DO et al. (Apr 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. 
  3. ^ "Entrez Gene: NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa". 
  4. ^ Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM et al. (Sep 2004). "NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency". The Journal of Clinical Investigation 114 (6): 837–45. doi:10.1172/JCI20683. PMID 15372108. 
  5. ^ McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ et al. (Jan 2004). "De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency". Annals of Neurology 55 (1): 58–64. doi:10.1002/ana.10787. PMID 14705112. 
  6. ^ Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M et al. (Apr 2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing". Journal of Medical Genetics 49 (4): 277–83. doi:10.1136/jmedgenet-2012-100846. PMID 22499348. 
  7. ^ Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC et al. (2000). "Isolated complex I deficiency in children: clinical, biochemical and genetic aspects". Human Mutation 15 (2): 123–34. doi:10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. PMID 10649489. 
  8. ^ Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA (2001). "Respiratory chain complex I deficiency". American Journal of Medical Genetics 106 (1): 37–45. doi:10.1002/ajmg.1397. PMID 11579423. 
  9. ^ Robinson BH (May 1998). "Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect". Biochimica Et Biophysica Acta 1364 (2): 271–86. PMID 9593934. 

Further reading[edit]

  • Pilkington SJ, Walker JE (Apr 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, Minoshima S, Shimizu N, Yoshino H et al. (Nov 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". Biochemical and Biophysical Research Communications 216 (3): 771–7. doi:10.1006/bbrc.1995.2688. PMID 7488192. 
  • Hattori N, Yoshino H, Tanaka M, Suzuki H, Mizuno Y (Apr 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, Schuelke M, Buskens CA, Smeets RJ et al. (Dec 1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochemical and Biophysical Research Communications 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551. 
  • Bénit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP et al. (Jun 2003). "Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy". Human Mutation 21 (6): 582–6. doi:10.1002/humu.10225. PMID 12754703. 
  • Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, Akiyama T et al. (Jul 2003). "Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 120B (1): 72–8. doi:10.1002/ajmg.b.20041. PMID 12815743. 
  • Washizuka S, Iwamoto K, Kazuno AA, Kakiuchi C, Mori K, Kametani M et al. (Oct 2004). "Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees". Biological Psychiatry 56 (7): 483–9. doi:10.1016/j.biopsych.2004.07.004. PMID 15450783. 
  • Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H et al. (Sep 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, Tochigi M, Umekage T, Kohda K et al. (Apr 2006). "Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 141B (3): 301–4. doi:10.1002/ajmg.b.30285. PMID 16508936.