Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD4
Variant:p.C53S
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CHCHD4

NM_001098502.2:p.C53S

Associated Papers

The C-terminal region of the oxidoreductase MIA40 stabilizes its cytosolic precursor during mitochondrial import.

Murschall LM et al.

Bmc Biology, 2020

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.

Mohanraj K et al.

Embo Molecular Medicine, 2019

Vectorial Import via a Metastable Disulfide-Linked Complex Allows for a Quality Control Step and Import by the Mitochondrial Disulfide Relay.

Habich M et al.

Cell Reports, 2019

Human mitochondrial MIA40 (CHCHD4) is a component of the Fe-S cluster export machinery.

Murari A et al.

The Biochemical Journal, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."