Gene: PNPLA2

Alternate names for this Gene: 1110001C14Rik|ATGL|FP17548|PEDF-R|TTS-2.2|TTS2|iPLA2zeta

Gene Summary: This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: patatin like phospholipase domain containing 2

Type of Gene: protein-coding

rs1554975332 in PNPLA2 gene and Dysmorphic features PMID 25956450 2016 Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.

PMID 24334715 2014 A novel type of human spontaneous coronary atherosclerosis with triglyceride deposition.

PMID 24332944 2014 Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.

PMID 24836204 2014 A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

PMID 19038890 2008 Triglyceride deposit cardiomyovasculopathy.

PMID 21544567 2011 The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

rs121918259 in PNPLA2 gene and Neutral Lipid Storage Disease with Myopathy PMID 22990388 2012 Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

PMID 23449549 2013 Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.

PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

PMID 21544567 2011 The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

PMID 18445597 2008 The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding.

rs10902223 in PNPLA2 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.