The clinically relevant MTARC1 p.Ala165Thr variant impacts neither the fold nor active site architecture of the human mARC1 protein

doi:10.1101/2022.03.26.485076

The clinically relevant MTARC1 p.Ala165Thr variant impacts neither the fold nor active site architecture of the human mARC1 protein

2022 · doi:10.1101/2022.03.26.485076

preprint OA: closed

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Abstract

Recent genome-wide association studies (GWAS) have shown a common variant of the mARC1 protein to be associated with liver disease. Herein, we present the crystal structure of this mARC1 p.Ala165Thr at near-atomic resolution. No relevant differences between the structure of wild type mARC1 and the variant protein are detected.

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Cited by (1)

Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1 in HepG2 cells 2023

Cited by (1)

Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1 in HepG2 cells 2023

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