TMEM126B

Summary

Gene Symbol: TMEM126B
Description: transmembrane protein 126B
Alias: HT007, complex I assembly factor TMEM126B, mitochondrial
Species: human

Top Publications

  1. doi The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution
    Dei M Elurbe
    Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, The Netherlands
    Biochim Biophys Acta 1857:971-9. 2016
  2. pmc Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
    Laura Sánchez-Caballero
    Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein zuid 10, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 99:208-16. 2016
  3. pmc Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
    Charlotte L Alston
    Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK
    Am J Hum Genet 99:217-27. 2016
  4. doi Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex
    Heinrich Heide
    Molecular Bioenergetics Group, Medical School, Cluster of Excellence Frankfurt Macromolecular Complexes, Goethe University, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany
    Cell Metab 16:538-49. 2012
  5. pmc Assembly factors for the membrane arm of human complex I
    Byron Andrews
    Medical Research Council Mitochondrial Biology Unit, Cambridge CB2 0XY, United Kingdom
    Proc Natl Acad Sci U S A 110:18934-9. 2013
  6. pmc Genome-wide association with bone mass and geometry in the Framingham Heart Study
    Douglas P Kiel
    Hebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 8:S14. 2007
  7. pmc A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
    Karol Estrada
    Department of Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands
    Hum Mol Genet 18:3516-24. 2009

Scientific Experts

  • Douglas P Kiel
  • Dei M Elurbe
  • Laura Sánchez-Caballero
  • Charlotte L Alston
  • Ilka Wittig
  • Ulrich Brandt
  • Byron Andrews
  • Heinrich Heide
  • Karol Estrada
  • Benoit Funalot
  • Rudy Van Coster
  • Arnaud V Vanlander
  • Valentina Strecker
  • Nadine Romain
  • David R Thorburn
  • Ronald G Haller
  • Katrien Stouffs
  • Richard J Rodenburg
  • Mariël A M van den Brand
  • Luke E Formosa
  • David Cassiman
  • Agnes Rotig
  • Rafal Płoski
  • Benedetta Ruzzenente
  • Monika Oláhová
  • Johannes A Mayr
  • Ewa Pronicka
  • Martijn A Huynen
  • John W Yarham
  • Marlene Rio
  • Boel De Paepe
  • Elzbieta Ciara
  • Giulia Barcia
  • Zahra Assouline
  • Lucas Bianchi
  • Dariusz Rokicki
  • Leo G Nijtmans
  • Robert W Taylor
  • Metodi D Metodiev
  • Michael T Ryan
  • Sara Seneca
  • Rene G Feichtinger
  • Sergio Guerrero-Castillo
  • Joel Smet
  • David Koolen
  • Peter Diakumis
  • Melanie Bahlo
  • Langping He
  • Joery P Molenaar
  • Tobias B Haack
  • Johan L K Van Hove
  • Holger Prokisch
  • Alison G Compton
  • Ian M Fearnley
  • Joe Carroll
  • John E Walker
  • Shujing Ding
  • Stefan Dröse
  • Lea Bleier
  • Mirco Steger
  • Jörg Ackermann
  • Bettina Schwamb
  • Martin Zörnig
  • Andreas S Reichert
  • Ina Koch
  • Jouke Jan Hottenga
  • Natascha Schoor
  • Dorret I Boomsma
  • Ben A Oostra
  • Mattias Lorentzon
  • Gonneke Willemsen
  • Eco J C de Geus
  • Brenda W J H Penninx
  • Victor Pop
  • Nicole Vogelzangs
  • Cornelia M van Duijn
  • Jules de Keijzer
  • Andre G Uitterlinden
  • Lisette Stolk
  • Paul Lips
  • Claes Ohlsson
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  • Albert Hofman
  • Yurii S Aulchenko
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  • Kate van Duijn
  • Manfred Kayser
  • Fernando Rivadeneira
  • Michael Krawczak
  • Fan Liu

Detail Information

Publications7

  1. doi The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution
    Dei M Elurbe
    Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, The Netherlands
    Biochim Biophys Acta 1857:971-9. 2016
    ..of complex I and its assembly there are many cases of neofunctionalization after gene duplication, like ACAD9 and TMEM126B, one case of subfunctionalization: ACPM1 and ACPM2 in Yarrowia lipolytica, and one case in which a complex I ..
  2. pmc Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
    Laura Sánchez-Caballero
    Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein zuid 10, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 99:208-16. 2016
    ..Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor...
  3. pmc Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
    Charlotte L Alston
    Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK
    Am J Hum Genet 99:217-27. 2016
    ..Complexome profiling recently identified TMEM126B as a component of the mitochondrial complex I assembly complex alongside proteins ACAD9, ECSIT, NDUFAF1, and ..
  4. doi Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex
    Heinrich Heide
    Molecular Bioenergetics Group, Medical School, Cluster of Excellence Frankfurt Macromolecular Complexes, Goethe University, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany
    Cell Metab 16:538-49. 2012
    ..b>TMEM126B was found to comigrate with known assembly factors of mitochondrial complex I, namely CIA30, Ecsit, and Acad9...
  5. pmc Assembly factors for the membrane arm of human complex I
    Byron Andrews
    Medical Research Council Mitochondrial Biology Unit, Cambridge CB2 0XY, United Kingdom
    Proc Natl Acad Sci U S A 110:18934-9. 2013
    ..The characteristics of C3orf1, of another assembly factor, TMEM126B, and of NDUFA11 suggest that they all participate in constructing the membrane arm of complex I.
  6. pmc Genome-wide association with bone mass and geometry in the Framingham Heart Study
    Douglas P Kiel
    Hebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 8:S14. 2007
    ..There have been no genome-wide association and linkage studies for these traits using high-density genotyping platforms...
  7. pmc A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
    Karol Estrada
    Department of Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands
    Hum Mol Genet 18:3516-24. 2009
    ..1 x 10(-7)). Taken together, these results suggest that variation in the C-type natriuretic peptide signaling pathway, involving the NPPC and NPR3 genes, plays an important role in determining human body height...