GeneID: 337


Common Name: PNPLA3 Type: Gene
Chromosome: 22 (NC_000022.11) Locus: NG_008631.1 (PNPLA3)
HUGO Symbol: PNPLA3 Full Name: patatin like phospholipase domain containing 3
Exons: 9 Introns: 8

The PNPLA3 protein, also referred to as adiponutrin, acts as a hydrolase in the metabolism of triglycerides and retinyl esters, suggesting a role for PNPLA3 in energy usage, lipid metabolism, and retinol synthesis. It is highly abundant in the liver and in adipocytes. Genetic variance in PNPLA3 gene associated with haematological parameters (e.g., platelet count).

Synonyms: C22orf20 , ADPN


Number of entries/variants: 1


Sequence Viewer

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Publications / Origin

  1. Winberg ME, Motlagh MK, Stenkula KG, Holm C, Jones HA, Adiponutrin: a multimeric plasma protein., Biochem. Biophys. Res. Commun., 446(4), 1114-9, 2014 PubMed
  2. Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed
Created on 2019-12-10 10:45:31, Last reviewed on (Show full history)

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