Protein-coding gene in the species Homo sapiens
NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), also known as B17.2L or NDUFA12L , is a protein that in humans is encoded by the NDUFAF2, or B17.2L, gene .[ 5] chaperone involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I , which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain .[ 6] [ 7] Mutations in this gene have been associated with progressive encephalopathy and Leigh disease resulting from mitochondrial complex I deficiency.[ 5]
NDUFAF2 is located on the q arm of chromosome 5 in position 12.1.[ 5] NDUFAF2 gene produces a 20 kDa protein composed of 169 amino acids .[ 8] [ 9] NDUFA12 subunit family.[ 10] [ 11]
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain , resulting in the translocation of protons across the inner mitochondrial membrane. The NDUFAF2 gene encodes a complex I assembly factor, B17.2L, that is important for the correct function of the mitochondrial respiratory chain.[ 5] molecular chaperone , associating with an 830 kDa subassembly in the late stages of complex I assembly.[ 7]
Clinical significance [ edit ] Mutations in NDUFAF2 have been associated with complex I deficiency and mitochondrial diseases . These disorders are a result of the dysfunction of the mitochondrial respiratory chain and can cause a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders . Phenotypes include macrocephaly with progressive leukodystrophy , non-specific encephalopathy , cardiomyopathy , myopathy , liver disease , Leigh syndrome , Leber hereditary optic neuropathy , and some forms of Parkinson disease .[ 10] [ 11] [ 7] [ 12] [ 13]
In addition to co-complexes, NDUFAF2 has protein-protein interactions with CYB5B SEC22B , TMEM97, TMEM201, SPG21 , LPAR3 , STX8 , OPTN .[ 14]
^ a b c GRCh38: Ensembl release 89: ENSG00000164182 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068184 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b c d "Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 2" . Retrieved 2018-07-23 .^ Donald Voet; Judith G. Voet; Charlotte W. Pratt (2013). "18". Fundamentals of biochemistry : life at the molecular level (4th ed.). Hoboken, NJ: Wiley. pp. 581–620. ISBN 9780470547847 ^ a b c Ogilvie, Isla; Kennaway, Nancy G.; Shoubridge, Eric A. (October 2005). "A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy" . The Journal of Clinical Investigation . 115 (10): 2784–2792. doi :10.1172/JCI26020 . ISSN 0021-9738 . PMC 1236688 PMID 16200211 . ^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase" . Circulation Research . 113 (9): 1043–53. doi :10.1161/CIRCRESAHA.113.301151 . PMC 4076475 PMID 23965338 . ^ Yao, Daniel. "Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) —— Protein Information" . amino.heartproteome.org . Retrieved 2018-07-23 . ^ a b "NDUFAF2 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 precursor - Homo sapiens (Human) - NDUFAF2 gene & protein" . www.uniprot.org . Retrieved 2018-07-23 .^ a b "UniProt: the universal protein knowledgebase" . Nucleic Acids Research . 45 (D1): D158–D169. 2016-11-29. doi :10.1093/nar/gkw1099 . ISSN 0305-1048 . PMC 5210571 PMID 27899622 .^ Herzer, M.; Koch, J.; Prokisch, H.; Rodenburg, R.; Rauscher, C.; Radauer, W.; Forstner, R.; Pilz, P.; Rolinski, B. (February 2010). "Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect" (PDF) . Neuropediatrics . 41 (1): 30–34. doi :10.1055/s-0030-1255062 . hdl :2066/87232 ISSN 1439-1899 . PMID 20571988 . S2CID 46175747 . ^ Hoefs, Saskia J. G.; Dieteren, Cindy E. J.; Rodenburg, Richard J.; Naess, Karin; Bruhn, Helene; Wibom, Rolf; Wagena, Esther; Willems, Peter H.; Smeitink, Jan A. M. (July 2009). "Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency" . Human Mutation . 30 (7): E728–736. doi :10.1002/humu.21037 ISSN 1098-1004 . PMID 19384974 . S2CID 32746835 . ^ IntAct. "21 Binary interactions for NDUFAF2" . IntAct . Retrieved 2018-07-23 . Tsuneoka M, Teye K, Arima N, Soejima M, Otera H, Ohashi K, Koga Y, Fujita H, Shirouzu K, Kimura H, Koda Y (May 2005). "A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma" . J. Biol. Chem . 280 (20): 19977–85. doi :10.1074/jbc.M501231200 PMID 15774466 . Vogel RO, van den Brand MA, Rodenburg RJ, van den Heuvel LP, Tsuneoka M, Smeitink JA, Nijtmans LG (June 2007). "Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients". Mol. Genet. Metab . 91 (2): 176–82. doi :10.1016/j.ymgme.2007.02.007 . PMID 17383918 . Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN (December 2008). "Polymorphisms in mitochondrial genes and prostate cancer risk" . Cancer Epidemiol. Biomarkers Prev . 17 (12): 3558–66. doi :10.1158/1055-9965.EPI-08-0434 . PMC 2750891 PMID 19064571 . Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score" . Mol. Med . 16 (7–8): 247–53. doi :10.2119/molmed.2009.00159 . PMC 2896464 PMID 20379614 . Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression" . PLOS ONE . 5 (9): e12862. Bibcode :2010PLoSO...512862H . doi :10.1371/journal.pone.0012862 PMC 2943476 PMID 20877624 . Chen M, Huang H, He H, Ying W, Liu X, Dai Z, Yin J, Mao N, Qian X, Pan L (August 2015). "Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines" . Cancer Sci . 106 (8): 1075–83. doi :10.1111/cas.12710 . PMC 4556398 PMID 26033570 . This article incorporates text from the United States National Library of Medicine , which is in the public domain .
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