Genomes and Genes
Gene Symbol: TMEM126B
Description: transmembrane protein 126B
Alias: HT007, complex I assembly factor TMEM126B, mitochondrial
- 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. ..
- 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...
- 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...
- 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 ..