GeneID: 119



Names

Common Name: LPL Type: Gene
Chromosome: 8 (NC_000008.11) Locus: NG_008855.1 (LPL)
HUGO Symbol: LPL Full Name: lipoprotein lipase
Exons: 10 Introns: 9

Description:
The LPL gene encodes lipoprotein lipase, an enzyme involved in lipid metabolism. It is produced in extrahepatic tissues, including the heart, skeletal muscle and adipose tissue, and is localised to the luminal surface of endothelial cells via interaction with heparan sulfate proteoglycans. It plays a key role in the regulation of blood triglyceride (TG) levels by mediating hydrolysis of circulating TG-rich lipoproteins, such as chylomicrons and very low density lipoproteins (VLDL), to fatty-acids, which serve as a source of energy. It also functions as a ligand/bridging factor for receptor-mediated lipoprotein uptake. Mutations in this gene cause type I hyperlipoproteinemia, as well as disorders of lipoprotein metabolism. Polymorphisms in this gene associated with stroke in sickle cell patients.

Synonyms: LIPD , HDLCQ11

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Wang CS, Hartsuck J, McConathy WJ, Structure and functional properties of lipoprotein lipase., Biochim. Biophys. Acta , 1123(1), 1-17, 1992 PubMed
  2. Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, , Gene interactions and stroke risk in children with sickle cell anemia., Blood , 103(6), 2391-6, 2004 PubMed
  3. Hoppe C, Klitz W, D'Harlingue K, Cheng S, Grow M, Steiner L, Noble J, Adams R, Styles L, , Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia., Stroke , 38(8), 2241-6, 2007 PubMed
Created on 2016-04-27 15:01:13, Last reviewed on 2016-04-27 15:06:43 (Show full history)


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