Lipoprotein lipase gene
Lipoprotein lipase (LPL) is a key enzyme in lipid metabolism and responsible for catalyzing lipolysis of .
Gene therapy for lipoprotein lipase deficiency
Lipoprotein lipase (LpL) is a member of the lipase superfamily. Furthermore, its tissue distribution is different .LPL lipoprotein lipase [ Homo sapiens (human) ] Gene ID: 4023, updated on 10-Mar-2024.Common mutations in the lipoprotein lipase (LPL) gene are at least in part inherited susceptibility factors involved in the age- and sex-dependent phenotypic expression of hypertriglyceridemia. Human LPL is a member of a superfamily of lipases that includes hepatic . 8 The LPL Asp9Asn mutation is .Lipoprotein lipase deficiency is a rare autosomal recessive genetic disorder of lipid metabolism.Lipoprotein lipase (LPL) is one of the most important factors in systemic lipid partitioning and metabolism. Found on the luminal surface of capillaries, lipoprotein lipase (LPL) is the rate-limiting enzyme for clearance of circulating chylomicrons and very-low-density lipoprotein (VLDL) from the plasma. In this study, we studied the relationship between polymorphism and messenger . Cite this article. (1987) used a cDNA probe for lipoprotein lipase to map the LPL gene to 8p22 by Southern blot analysis of somatic cell hybrids and by in situ hybridization. Several studies have recently reported the presence of a relationship between Ser447Stop mutation of LPL and coronary artery disease. It is characterized by severe hypertriglyceridemia and chylomicronemia.
The common biological basis for common complex diseases
It has a considerable molecular homology with lipoprotein lipase (LPL) (44%) and hepatic lipase (HL) (41%). See all available tests in GTR for this gene ; Go to complete Gene record for LPL; Go to Variation Viewer for LPL variants; Summary.Lipoprotein lipase. BLAST Download Add Add a publication Entry . Feature viewer.Objective: To compare body mass index (BMI), lipid, lipoprotein and apolipoprotein concentrations according to the Hind III and Pvu II restriction polymorphisms of the LPL gene in obese subjects. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Familial LPL deficiency is inherited in an autosomal recessive manner. However, there are limited data concerning the action of LPL on the regulation of milk fat synthesis in goat mammary gland. Hypertriglyceridemia, one widely prevalent syndrome of LPL deficiency and dysfunction, may be a risk factor in the development of dyslipidemia, type II diabetes (T2D), essential hypertension (EH), coronary heart disease (CHD) and . 475 (go to sequence) Protein existence.Normal gene product. LPL is produced mainly in adipose tissue, skeletal and heart muscle, as well as in macrophage and other tissues. LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose .The lipase gene family.
The lipase gene family
1016/0163-7258 (96)00005-8.LPL (Lipoprotein Lipase) is a Protein Coding gene.LPL - lipoprotein lipase.
Biochemistry, Lipoprotein Lipase
Synthesized in multiple tissues including striated muscle and adipose tissue, lipoprotein lipase is trafficked to blood vessel endothelial cells where it is anchored at the plasma membrane and hydrolyzes .DrugsLoc107986921piR-48759-454Hsalng0150156Hsalng0063742Hsalng0150152
Lipoprotéine lipase — Wikipédia
It mediates intravascular hydrolysis of triglycerides packed in .
LPL functions as a homodimer, and has the dual functions of triglyceride .
Lipoprotein lipase: from gene to obesity
LPL is produced .LPL GENETICS: HUMAN DIVERSITY. LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue.The only gene therapy treatment for lipoprotein lipase deficiency decreases pancreatitis but minimally reduces hypertriglyceridemia. Unlike LPL and HL, this enzyme is synthesized by endothelial cells and functions at the site where it is synthesized. Genomic coordinates.
34) is a key enzyme in the metabolism of lipids. This enzyme is .
Lipoprotein Lipase and Its Regulators: An Unfolding Story
Diacylglycerol lipase (DAG lipase) has two identifiable functions. Design: Cross sectional study of anthropometric and lipid variables in relation to genetic factors.
Lipoprotein lipase is an extracellular enzyme on the vascular endothelial surface, anchored to capillary walls. However, LPL may also contribute to lipoprotein uptake by acting as a molecular bridge between lipoproteins .Andrew E Libby. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic .The LPL gene provides instructions for making an enzyme called lipoprotein lipase.Molecular pathobiology of the human lipoprotein lipase gene.Lipoprotein lipase deficiency is a rare inherited disease characterized by severe hypertriglyceridaemia, chylomicronaemia and risk of recurrent pancreatitis or other complications.1) Clinical implications of human LPL gene variations: common mutations and their effects on plasma lipids and coronary heart disease are discussed.Lipoprotein lipase (LPL) is a key enzyme in lipid and lipoprotein metabolism. After synthesized, it is secreted and translocated to the vascular lumen. Many diseases, including obesity, coronary heart disease, chylomicronemia (pancreatitis), and atherosclerosis, appear to be directly or indirectly related to abnormalities in LPL function. Download Datasets. It can be estimated that about 20% of patients with hypertriglyceridemia are carriers of common LPL gene mutations (Asp9Asn, Asn291Ser, . In this investigation, we describe the cloning and sequencing of the LPL gene . Predicted to enable apolipoprotein binding activity; lipoprotein lipase activity; and phospholipase activity.Endothelial lipase (EL) is a newly described member of the triglyceride lipase gene family.
Diseases associated with LPL include Hyperlipoproteinemia, Type I and Hyperlipidemia, Familial Combined, 3 . Official Symbol.Gene ID: 30354, updated on 5-Mar-2024. Pages 47-54 | Published online: 15 May 2014. Figures & data.We found that a genetic variant in the gene encoding lipoprotein lipase reduces the risk for hepatocellular carcinoma in alcohol-associated cirrhosis.Auteur : Yasaman Pirahanchi, McDamian Anoruo, Sandeep Sharma
Lipoprotein lipase: from gene to obesity
This enzyme is found primarily on the surface of cells that line tiny blood vessels (capillaries) .
P06858
UniProtKB reviewed (Swiss-Prot) Organism.Lipoprotein lipase is a central enzyme in the lipid metabolism, which catalyses the hydrolysis of the triacylglycerol component of chylomicrons and very low density lipoproteins, thereby providing fatty acids and monoacylglycerol for tissue utilisation.Estrogen markedly decreased the amounts of fat accumulation and lipoprotein lipase (LPL) mRNA as well as triglyceride accumulation in genetically manipulated 3T3-L1 adipocytes stably expressing the estrogen receptor (ER). Evidence at protein level. It is transported to the luminal surface of the capillary endothelium of extrahepatic tissues. Genetic Variants .The lipoprotein lipase (LPL) gene encodes a rate-limiting enzyme protein that has a key role in the hydrolysis of triglycerides. Setting: Nutrition Outpatient Clinic of Bichat Hospital in . 7 There are 2 common mutations in LPL gene, an Asp9Asn substitution in exon 2 and a T-to-G transition at position 3 of the proximal promotor region (−93T/G). Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while .This enzyme helps break down fats called triglycerides, which are .
LPL Gene
Linkage studies by Emi et al.Subsequent studies established that LpL is a lipolytic enzyme activated by apoCII, and participates in the efficient delivery .Vue d’ensemble
LPL lipoprotein lipase [Homo sapiens (human)]
The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This genetic variation may directly affect the liver, because, unlike in healthy adult liver, lipoprotein lipase is produced from liver cells in alcohol-associated cirrhosis.
However, there are few studies on the effect of LPL on intramuscular fat (IMF) deposition in Baicheng oil chicken (BOC) and Three-yellow Chicken (TYC). The LPL gene is located on chromosome 8p22, spans ∼30 kb and is divided into 10 exons, and has substantial .PMID: 25463094.atherosclerosis.Lipoprotein lipase: from gene to obesity. LPL provided by . (1993) indicated that the LPL gene is located about 11 cM proximal to the . Comprehensive in .
![[PDF] Physiological regulation of lipoprotein lipase. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/889af88ac9a37d081fdd20427efeabfbaeea3a6d/3-Figure2-1.png)
Annotation score. A pLPL(1980)-CAT construct, along with an ER expression vector, was introduced into .Lipoprotein lipase (LPL) is a key enzyme in lipid metabolism and responsible for catalyzing lipolysis of triglycerides in lipoproteins. 1996;70 (2):101-35.Genetic counseling. Second, DAG lipase has the capacity . Development of the lipase gene family spans the change in science that witnessed the birth of contemporary techniques of molecular biology. Other polymorphisms (HindIII and PvuII) of the LPL gene have already been shown to correlate significantly with dyslipidemia. LPL is produced mainly in .Mutations in the LPL gene cause familial lipoprotein lipase deficiency. LpL enzymatic activity was first discovered in 1943 when Paul Hahn observed that intravenous injection of heparin abolished postprandial hyperlipidemia []. Acts upstream of or within definitive hemopoiesis and response to (R)-carnitine. LPL is a member of the TG lipase gene family of proteins that includes hepatic lipase (HL), pancreatic lipase (PL), endothelial lipase (EL), and the Drosophila yolk proteins 1, 2, and 3 .
Molecular Cloning and Expression Analysis of Lipoprotein Lipase
The structure, function, expression regulation of the LPL gene, associated with type 2 diabetes, hypertension, atherosclerosis, obesity and coronary artery disease, is reviewed.Lipoprotein lipase (LPL) is a multifunctional enzyme produced by many tissues, including adipose tissue, cardiac and skeletal muscle, islets, and macrophages. Variant viewer. First, DAG lipase has a metabolic function to hydrolyze lipids.
Lipoprotein lipase: from gene to atherosclerosis
LPL gene mutation may affect the activity of LPL, and results in lipid metabolism disorder. Lipoprotein lipase (LPL) catalyses the hydrolysis of the triacylglycerol component of circulating chylomicrons and very low density lipoproteins, thereby providing non-esterified fatty acids and 2-monoacylglycerol for tissue utilisation. It is essential for the hydrolysis of chylomicron and VLDL triglycerides to provide .
