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

Top Publications

  1. Weihong C, Bin C, Jianfeng Y. Transmembrane protein 126B protects against high fat diet (HFD)-induced renal injury by suppressing dyslipidemia via inhibition of ROS. Biochem Biophys Res Commun. 2018;: pubmed publisher
    ..Transmembrane protein 126B (Tmem126b) is a complex I assembly factor, playing critical role in controlling important biological processes...
  2. Fuhrmann D, Wittig I, Brüne B. TMEM126B deficiency reduces mitochondrial SDH oxidation by LPS, attenuating HIF-1α stabilization and IL-1β expression. Redox Biol. 2019;20:204-216 pubmed publisher
    ..after lipopolysaccharide (LPS)-stimulation THP-1 macrophages with a knockdown of the transmembrane protein TMEM126B were generated...
  3. Elurbe D, Huynen M. The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution. Biochim Biophys Acta. 2016;1857:971-9 pubmed publisher
    ..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 ..
  4. Fuhrmann D, Wittig I, Dröse S, Schmid T, Dehne N, Brüne B. Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia. Cell Mol Life Sci. 2018;75:3051-3067 pubmed publisher
    ..One of these assembly factors is transmembrane protein 126B (TMEM126B). This protein is part of the mitochondrial complex I assembly machinery...
  5. Andrews B, Carroll J, Ding S, Fearnley I, Walker J. Assembly factors for the membrane arm of human complex I. Proc Natl Acad Sci U S A. 2013;110:18934-9 pubmed publisher
    ..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. Sánchez Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev M, et al. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Am J Hum Genet. 2016;99:208-16 pubmed publisher
    ..Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor...
  7. Theunissen T, Gerards M, Hellebrekers D, van Tienen F, Kamps R, Sallevelt S, et al. Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect. Front Mol Neurosci. 2017;10:336 pubmed publisher
    ..A pathogenic homozygous p.G212V missense mutation was identified in the TMEM126B gene, encoding an early assembly factor of complex I...
  8. Kiel D, Demissie S, Dupuis J, Lunetta K, Murabito J, Karasik D. Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet. 2007;8 Suppl 1:S14 pubmed webcite. The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis. ..
  9. Estrada K, Krawczak M, Schreiber S, van Duijn K, Stolk L, van Meurs J, et al. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet. 2009;18:3516-24 pubmed publisher
    ..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. ..

More Information


  1. Giachin G, Bouverot R, Acajjaoui S, Pantalone S, Soler Lopez M. Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases. Front Mol Biosci. 2016;3:43 pubmed publisher
    ..Here, we review the current knowledge of the structural features of CI and its assembly factors and the potential role of CI misassembly in human disorders such as Complex I Deficiencies or Alzheimer's and Parkinson's diseases. ..
  2. Heide H, Bleier L, Steger M, Ackermann J, Dröse S, Schwamb B, et al. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. Cell Metab. 2012;16:538-49 pubmed publisher
    ..b>TMEM126B was found to comigrate with known assembly factors of mitochondrial complex I, namely CIA30, Ecsit, and Acad9...
  3. Pronicka E, Piekutowska Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska Wieckowska A, et al. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016;14:174 pubmed publisher
    ..NAXE, NDUFS6, NDUFS7, NDUFV1, OPA1, PARS2, PC, PDHA1, POLG, RARS2, RRM2B, SCO2, SERAC1, SLC19A3, SLC25A12, TAZ, TMEM126B, VARS2) were identified...
  4. Alston C, Compton A, Formosa L, Strecker V, Oláhová M, Haack T, et al. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016;99:217-27 pubmed publisher
    ..Complexome profiling recently identified TMEM126B as a component of the mitochondrial complex I assembly complex alongside proteins ACAD9, ECSIT, NDUFAF1, and ..