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Article

Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse

4 Mar 2024

Abstract excerpt

Recent human genome-wide association studies have identified common missense variants in MARC1, p.Ala165Thr and p.Met187Lys, associated with lower hepatic fat, reduction in liver enzymes and protection from most causes of cirrhosis. Using an exome-wide association study we recapitulated earlier MARC1 p.Ala165Thr and p.Met187Lys findings in 540,000 individuals from five ancestry groups. We also discovered novel...

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PMID: 38437227
DOI: 10.1371/journal.pgen.1011179

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Related research

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Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mousePMID 38437227Read ↗

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The clinically relevant MTARC1 p.Ala165Thr variant impacts neither the fold nor active site architecture of the human mARC1 proteinSemantic proximity Read ↗

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