Complex I assembly factor TMEM126B, mitochondrial
Definition:
References:
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[1]. Byron Andrews, et al. Assembly factors for the membrane arm of human complex I. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18934-9. [Content Brief]
[2]. Charlotte L Alston, et al. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 7;99(1):217-27. [Content Brief]
[3]. Luke E Formosa, et al. Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I. Cell Rep. 2020 Apr 21;31(3):107541. [Content Brief]
[4]. Laura Sánchez-Caballero, et al. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Am J Hum Genet. 2016 Jul 7;99(1):208-16. [Content Brief]
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