Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Patatin-like phospholipase domain-containing protein 2

The PNPLA2 gene encodes an enzyme that is involved in metabolism of triglycerides in adipose tissues. Mutations cause autosomal recessive neutral lipid storage disease with myopathy. Also some genetic variations are associated with familial combined hyperlipidemia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Neutral lipid storage disease with myopathy
PNPLA2

References:

1.

Das SK et. al. (2011) Adipose triglyceride lipase contributes to cancer-associated cachexia.

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2.

Wang H et. al. (2011) Unique regulation of adipose triglyceride lipase (ATGL) by perilipin 5, a lipid droplet-associated protein.

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3.

Villena JA et. al. (2004) Desnutrin, an adipocyte gene encoding a novel patatin domain-containing protein, is induced by fasting and glucocorticoids: ectopic expression of desnutrin increases triglyceride hydrolysis.

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4.

Jenkins CM et. al. (2004) Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.

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5.

Zimmermann R et. al. (2004) Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase.

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6.

Fischer J et. al. (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

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7.

Akiyama M et. al. (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

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8.

Reilich P et. al. (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

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9.

Haemmerle G et. al. (2011) ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1.

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10.

Lin P et. al. (2012) Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

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11.

Nanni L et. al. (2010) Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.

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Update: Sept. 26, 2018