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Article

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 - 27 Apr 2021

Formosa Luke E, Reljic Boris, Sharpe Alice J, Hock Daniella H, Muellner-Wong Linden, Stroud David A, Ryan Michael T

Abstract excerpt

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...

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Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33879611
DOI: 10.1073/pnas.2019665118
PMCID: PMC8092609

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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