GeneID: 337
Names
Common Name: | PNPLA3 | Type: | Gene |
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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 |
Description:
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
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- 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
- 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
A/A | Date | Curator(s) | Comments |
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1 | 2019-12-10 10:45:31 | The IthaGenes Curation Team | Created |