2024年12月25日 · PNPLA2 (Patatin Like Phospholipase Domain Containing 2) is a Protein Coding gene. Diseases associated with PNPLA2 include Neutral Lipid Storage Disease With Myopathy and Primary Triglyceride Deposit Cardiomyovasculopathy.

Adipose triglyceride lipase, also known as patatin-like phospholipase domain-containing protein 2 and ATGL, is an enzyme that in humans is encoded by the PNPLA2 gene. [5] [6] [7] ATGL catalyses the first reaction of lipolysis, [8] where triacylglycerols are hydrolysed to …

The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). Learn about this gene and related health conditions.

Patatin-like phospholipase domain-containing proteins (PNPLAs) are involved in triglyceride hydrolysis and lipid-droplet homeostasis in mice, but the physiological significance of the PNPLAs for triglyceride metabolism in human hepatocytes is unclear. Here, we investigate the roles of PNPLA2, PNPLA3 …

2025年2月9日 · A missense mutation in PNPLA2 is the rare cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. A novel deletion was identified in PNPLA2 protein from a patient with complete deficiency of adipose triglyceride lipase.

PNPLA2, also known as adipose triglyceride lipase (ATGL) or desnutrin, contains 504 amino acids and is important for energy metabolism (4, 5). It is structured around two domains: N -terminal, with the active site, and C-terminal.

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method.

2006年12月24日 · Here we report a neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase (PNPLA2, also known as...

2024年3月1日 · Patatin-like phospholipase domain containing proteins (PNPLAs) play diverse roles in lipid metabolism. In this review, we focus on the enzymatic properties and predicted 3D structures of PNPLA1-5. PNPLA2-4 exert both catabolic and anabolic functions.

2024年3月5日 · Clinical resource with information about PNPLA2, Neutral lipid storage myopathy, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.