Article
The human disease gene <i>CLEC16A</i> encodes an intrinsically disordered protein region required for mitochondrial quality control
2021-09-04
Abstract excerpt
<h4>ABSTRACT</h4> CLEC16A regulates mitochondrial health through mitophagy and is associated with over 20 human diseases. While CLEC16A has ubiquitin ligase activity, the key structural and functional regions of CLEC16A, and their relevance for human disease, remain unknown. Here, we report that a disease-associated CLEC16A variant lacks a C-terminal intrinsically disordered protein region (IDPR) that is critical...
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Identifiers and source
- Literature Corpus work
- e8e6a6e3-b71f-5aa8-a95d-602ed47827d0
- DOI
- 10.1101/2021.09.03.458272
