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.

Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone and acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade (By similarity). Also possesses acylglycerol transacylase and phospholipase A2 activities (PubMed:15364929, PubMed:17032652, PubMed:17603008).

HGNC Approved Gene Symbol: PNPLA2. Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38) : 11:818,914-825,573 (from NCBI) PNPLA2 is a triglyceride lipase (EC 3.1.1.3) that localizes to lipid droplets and catalyzes the initial step …

The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides, which are the main source of stored energy in cells. Triglycerides are the major component of cell structures called lipid droplets (also called adiposomes).

Background Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy. Objective To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2.

The PNPLA2 gene encodes for the enzyme patatin-like phospholipase domain-containing protein 2 (PNPLA2), a critical component of lipid metabolism. It primarily functions in the hydrolysis of triglycerides, breaking them down into fatty acids and glycerol.

PNPLA2 is a prognostic marker in Kidney renal clear cell carcinoma Cancer specificity i Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.