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PNPLA3 patatin like phospholipase domain containing 3

Gene ID: 80339, updated on 26-Jul-2021
Gene type: protein coding
Also known as: ADPN; C22orf20; iPLA(2)epsilon

Summary

The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
GeneReviews: Not available
Genome-wide analysis of hepatic lipid content in extreme obesity.
GeneReviews: Not available
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
GeneReviews: Not available

Genomic context

Location:
22q13.31
Sequence:
Chromosome: 22; NC_000022.11 (43923805..43947582)
Total number of exons:
9

Links

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