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The role of PNPLA3 in health and disease.

Journal article
Authors Piero Pingitore
Stefano Romeo
Published in Biochimica et biophysica acta
Volume 1864
Issue 6
Pages 900-906
ISSN 0006-3002
Publication year 2019
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Pages 900-906
Language en
Subject categories Cardiovascular medicine


The human patatin-like phospholipase domain-containing 3 (PNPLA3) gene encodes for a protein of 481 amino-acids. The variant rs738409 is a cytosine to guanine substitution, encoding for the isoleucine to methionine substitution at position 148 (I148M) of the protein. This variant is strongly associated with the entire spectrum of liver disease. Although this variant is one of the best characterized and deeply studied, the mechanism behind the PNPLA3 and the liver disease is still not well defined. Functionally, it has become clear that the PNPLA3 protein is an enzyme with lipase activity towards triglycerides and retinyl esters, and acyltransferase activity on phospholipids. The aim of this review is to collect the latest data, obtained by in vitro and in vivo experiments, on the functional aspects of the PNPLA3 protein. Defining the precise role of PNPLA3 in the liver lipid metabolism, in order to develop novel therapies for the treatment of liver disease, will be the key of future research.

Page Manager: Webmaster|Last update: 9/11/2012

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