气候变化领域集成服务门户(CCPortal): Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I

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DOI	10.1073/pnas.2019665118
	Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
	Formosa L.E.; Reljic B.; Sharpe A.J.; Hock D.H.; Muellner-Wong L.; Stroud D.A.; Ryan M.T.
发表日期	2021
ISSN	00278424
卷号	118 期号:17
英文摘要	Mitochondrial disease is a debilitating condition with a diverse genetic etiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal-recessive optic atrophy, participates directly in the assembly of mitochondrial complex I. Using a combination of genome editing, interaction studies, and quantitative proteomics, we find that loss of TMEM126A results in an isolated complex I deficiency and that TMEM126A interacts with a number of complex I subunits and assembly factors. Pulse-labeling interaction studies reveal that TMEM126A associates with the newly synthesized mitochondrial DNA (mtDNA)-encoded ND4 subunit of complex I. Our findings indicate that TMEM126A is involved in the assembly of the ND4 distal membrane module of complex I. In addition, we find that the function of TMEM126A is distinct from its paralogue TMEM126B, which acts in assembly of the ND2-module of complex I. © 2021 National Academy of Sciences. All rights reserved.
英文关键词	Complex I; Membrane protein; Mitochondria; Optic atrophy; Oxidative phosphorylation
语种	英语
来源期刊	Proceedings of the National Academy of Sciences of the United States of America
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/179762
作者单位	Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia; Department of Biochemistry and Pharmacology, The Bio21 Institute, The University of Melbourne, Melbourne, VIC 3000, Australia
推荐引用方式 GB/T 7714	Formosa L.E.,Reljic B.,Sharpe A.J.,等. Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I[J],2021,118(17).
APA	Formosa L.E..,Reljic B..,Sharpe A.J..,Hock D.H..,Muellner-Wong L..,...&Ryan M.T..(2021).Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.Proceedings of the National Academy of Sciences of the United States of America,118(17).
MLA	Formosa L.E.,et al."Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I".Proceedings of the National Academy of Sciences of the United States of America 118.17(2021).