Article

The Landscape of Mutations in Human Fumarate Hydratase

2019-11-23

Abstract excerpt

<h4>ABSTRACT</h4> Fumarate Hydratase (FH) is an enzyme of the citric acid (TCA) cycle that is responsible for reversibly catalysing the conversion between fumarate and malate. FH loss and subsequent buildup of the oncometabolite fumarate causes hereditary leiomyomatosis and renal cell carcinoma. We explore the mutational landscape of FH in silico, predict the functional effects of many already detected mutations,...

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Literature Corpus work: 7ddea561-837a-5d17-bce5-35281f7caadc
DOI: 10.1101/852392

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