The NDUFAF6 gene is located on the q arm of chromosome 8 in position 22.1 and spans 222,728 base pairs.[4] The gene produces a 38.2 kDa protein composed of 333 amino acids.[6][7] The protein contains a predicted phytoene synthase domain.[4]
^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 (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC4076475. PMID 23965338.
^"NDUFAF6 - NADH dehydrogenase (ubiquinone) complex I, assembly factor 6". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
^Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {612392}: {04/29/2015}: . World Wide Web URL: https://omim.org/
McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT (December 2011). "Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1". J. Mol. Biol. 414 (3): 413–26. doi:10.1016/j.jmb.2011.10.012. PMID 22019594.
Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng WL, David G, Haueter C, Yamamoto S, Graham BH, Bellen HJ (March 2013). "The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit". J. Cell Biol. 200 (6): 807–20. doi:10.1083/jcb.201208033. PMC3601355. PMID 23509070.
Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S (September 2016). "Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6". Hum. Mol. Genet. 25 (18): 4062–4079. doi:10.1093/hmg/ddw245. PMID 27466185.
Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, Galluzzi P, Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E (November 2016). "Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene". Mol. Genet. Metab. 119 (3): 214–222. doi:10.1016/j.ymgme.2016.09.001. PMID 27623250.
ndufaf6, nadh, ubiquinone, oxidoreductase, complex, assembly, factor, protein, that, humans, encoded, gene, protein, involved, assembly, complex, mitochondrial, electron, transport, chain, mutations, gene, have, been, shown, cause, complex, deficiency, leigh, . NADH ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene The protein is involved in the assembly of complex I in the mitochondrial electron transport chain 4 Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency Leigh syndrome and Acadian variant Fanconi Syndrome 5 NDUFAF6IdentifiersAliasesNDUFAF6 C8orf38 NADH ubiquinone oxidoreductase complex assembly factor 6External IDsOMIM 612392 MGI 1924197 HomoloGene 43831 GeneCards NDUFAF6Gene location Mouse Chr Chromosome 4 mouse 1 Band4 4 A1Start11 051 045 bp 1 End11 076 205 bp 1 Gene ontologyMolecular functiontransferase activityCellular componentnucleus membrane cytoplasm mitochondrion mitochondrial inner membraneBiological processmitochondrial respiratory chain complex I assembly biosynthesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez13768276947EnsemblENSG00000156170ENSMUSG00000050323UniProtQ330K2A2AIL4RefSeq mRNA NM 152416NM 001330582NM 001085493RefSeq protein NP 001317511NP 689629NP 001341443NP 001341444NP 001341445NP 001341446NP 001341447NP 001341448NP 001341450NP 001341451NP 001341453NP 001341456NP 001341457NP 001341458NP 001341460NP 001341461NP 001341462NP 001341463NP 001341454NP 001341459NP 001078962Location UCSC n aChr 4 11 05 11 08 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical Significance 4 Interactions 5 References 6 Further readingStructure editThe NDUFAF6 gene is located on the q arm of chromosome 8 in position 22 1 and spans 222 728 base pairs 4 The gene produces a 38 2 kDa protein composed of 333 amino acids 6 7 The protein contains a predicted phytoene synthase domain 4 Function editThe NDUFAF6 gene encodes a protein that localizes to mitochondria The encoded protein plays an important role in the assembly of complex I NADH ubiquinone oxidoreductase of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis 4 Clinical Significance editMutations in the NDUFAF6 gene are associated with complex I enzymatic deficiency 4 and lead to Leigh syndrome 8 which is characterized by lesions in the central nervous system and rapid deterioration of cognitive and motor functions In Acadians a non coding mutation in NDUFAF6 has been shown to cause Acadian variant Fanconi Syndrome symptoms of which include pulmonary interstitial fibrosis and proximal tubular dysfunction accompanied by slowly progressive kidney disease Inheritance of mutations in the NDUFAF6 gene is autosomal recessive 5 Interactions editThe protein encoded by NDUFAF6 interacts with RHOXF2 OTX1 GUCD1 9 and GALNT6 10 proteins References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000050323 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 e Entrez Gene NADH ubiquinone oxidoreductase complex assembly factor 6 Retrieved 2018 07 25 a b Bianciardi Laura Imperatore Valentina Fernandez Vizarra Erika Lopomo Angela Falabella Micol Furini Simone Galluzzi Paolo Grosso Salvatore Zeviani Massimo 2016 Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene Molecular Genetics and Metabolism 119 3 214 222 doi 10 1016 j ymgme 2016 09 001 ISSN 1096 7192 PMID 27623250 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 Oct 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 NDUFAF6 NADH dehydrogenase ubiquinone complex I assembly factor 6 Cardiac Organellar Protein Atlas Knowledgebase COPaKB Online Mendelian Inheritance in Man OMIM Johns Hopkins University Baltimore MD MIM Number 612392 04 29 2015 World Wide Web URL https omim org IntAct id Q330K2 www ebi ac uk Retrieved 2018 07 26 Lab Mike Tyers NDUFAF6 Result Summary BioGRID thebiogrid org Retrieved 2018 07 26 Further reading editHendrickson 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 McKenzie M Tucker EJ Compton AG Lazarou M George C Thorburn DR Ryan MT December 2011 Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria encoded subunit ND1 J Mol Biol 414 3 413 26 doi 10 1016 j jmb 2011 10 012 PMID 22019594 Zhang K Li Z Jaiswal M Bayat V Xiong B Sandoval H Charng WL David G Haueter C Yamamoto S Graham BH Bellen HJ March 2013 The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit J Cell Biol 200 6 807 20 doi 10 1083 jcb 201208033 PMC 3601355 PMID 23509070 Hartmannova H Piherova L Tauchmannova K Kidd K Acott PD Crocker JF Oussedik Y Mallet M Hodanova K Stranecky V Pristoupilova A Baresova V Jedlickova I Zivna M Sovova J Hulkova H Robins V Vrbacky M Pecina P Kaplanova V Houstek J Mracek T Thibeault Y Bleyer AJ Kmoch S September 2016 Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non coding mutation in complex I assembly factor NDUFAF6 Hum Mol Genet 25 18 4062 4079 doi 10 1093 hmg ddw245 PMID 27466185 Bianciardi L Imperatore V Fernandez Vizarra E Lopomo A Falabella M Furini S Galluzzi P Grosso S Zeviani M Renieri A Mari F Frullanti E November 2016 Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene Mol Genet Metab 119 3 214 222 doi 10 1016 j ymgme 2016 09 001 PMID 27623250 This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title NDUFAF6 amp oldid 1079516194, wikipedia, wiki, book, books, library,
