Ontology highlight
ABSTRACT:
SUBMITTER: Formosa LE
PROVIDER: S-EPMC8092609 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Formosa Luke E LE Reljic Boris B Sharpe Alice J AJ Hock Daniella H DH Muellner-Wong Linden L Stroud David A DA Ryan Michael T MT
Proceedings of the National Academy of Sciences of the United States of America 20210401 17
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 fa ...[more]