Genomes and Genes
Gene Symbol: TMEM126B
Description: transmembrane protein 126B
Alias: HT007, complex I assembly factor TMEM126B, mitochondrial
- The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolutionDei 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 ..
- Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyLaura 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...
- Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte 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 ..
- Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complexHeinrich 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...
- Assembly factors for the membrane arm of human complex IByron 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.
- Genome-wide association with bone mass and geometry in the Framingham Heart StudyDouglas 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...
- A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variationKarol 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...