NDUFAF6

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox gene}} '''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.<ref name="entrez">{{cite web|url=https://www.ncbi.nlm.nih.gov/gene/137682|title=Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 6|access-date=2018-07-25}}</ref> Mutations in the ''NDUFAF6'' gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.<ref name=":1" />

== Structure == The ''NDUFAF6'' gene is located on the q arm of chromosome 8 in position 22.1 and spans 222,728 base pairs.<ref name="entrez" /> The gene produces a 38.2 kDa protein composed of 333 amino acids.<ref name="COPaKB">{{cite journal|vauthors=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|date=Oct 2013|title=Integration of cardiac proteome biology and medicine by a specialized knowledgebase|journal=Circulation Research|volume=113|issue=9|pages=1043–53|doi=10.1161/CIRCRESAHA.113.301151|pmc=4076475|pmid=23965338}}</ref><ref name="url_COPaKB">{{cite web|url=https://amino.heartproteome.org/web/protein/Q330K2|title=NDUFAF6 - NADH dehydrogenase (ubiquinone) complex I, assembly factor 6|work=Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)}}</ref> The protein contains a predicted phytoene synthase domain.<ref name="entrez" />

== Function == The ''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.<ref name="entrez" />

== Clinical Significance == Mutations in the ''NDUFAF6'' gene are associated with complex I enzymatic deficiency<ref name="entrez" /> and lead to Leigh syndrome,<ref name=":0">Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {612392}: {04/29/2015}: . World Wide Web URL: https://omim.org/</ref> 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.<ref name=":1">{{Cite journal|last1=Bianciardi|first1=Laura|last2=Imperatore|first2=Valentina|last3=Fernandez-Vizarra|first3=Erika|last4=Lopomo|first4=Angela|last5=Falabella|first5=Micol|last6=Furini|first6=Simone|last7=Galluzzi|first7=Paolo|last8=Grosso|first8=Salvatore|last9=Zeviani|first9=Massimo|title=Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene|journal=Molecular Genetics and Metabolism|volume=119|issue=3|pages=214–222|doi=10.1016/j.ymgme.2016.09.001|issn=1096-7192|pmid=27623250|year=2016}}</ref>

== Interactions == The protein encoded by ''NDUFAF6'' interacts with RHOXF2, OTX1, GUCD1,<ref>{{Cite web|url=https://www.ebi.ac.uk/intact/interactors/id:Q330K2*|title=id:Q330K2*|last=IntAct|website=www.ebi.ac.uk|language=en|access-date=2018-07-26}}</ref> and GALNT6<ref>{{Cite web|url=https://thebiogrid.org/126481|title=NDUFAF6 Result Summary {{!}} BioGRID|last=Lab|first=Mike Tyers|website=thebiogrid.org|language=en|access-date=2018-07-26}}</ref> proteins.

== References == {{reflist}}

== Further reading == {{refbegin|2}} *{{cite journal|vauthors=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|date=September 2010|title=Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression|journal=PLOS ONE|volume=5|issue=9|article-number=e12862|doi=10.1371/journal.pone.0012862|pmc=2943476|pmid=20877624|bibcode=2010PLoSO...512862H|doi-access=free}} *{{cite journal|vauthors=McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT|date=December 2011|title=Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1|journal=J. Mol. Biol.|volume=414|issue=3|pages=413–26|doi=10.1016/j.jmb.2011.10.012|pmid=22019594}} *{{cite journal|vauthors=Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng WL, David G, Haueter C, Yamamoto S, Graham BH, Bellen HJ|date=March 2013|title=The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit|journal=J. Cell Biol.|volume=200|issue=6|pages=807–20|doi=10.1083/jcb.201208033|pmc=3601355|pmid=23509070}} *{{cite journal|vauthors=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|date=September 2016|title=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|journal=Hum. Mol. Genet.|volume=25|issue=18|pages=4062–4079|doi=10.1093/hmg/ddw245|pmid=27466185|doi-access=free|hdl=11104/0269081|hdl-access=free}} *{{cite journal|vauthors=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|date=November 2016|title=Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene|journal=Mol. Genet. Metab.|volume=119|issue=3|pages=214–222|doi=10.1016/j.ymgme.2016.09.001|pmid=27623250}} {{refend}}

Category:Peripheral membrane proteins Category:Cellular respiration