Gene Symbol | LPL |
Entrez Gene ID | 4023 |
Full Name | lipoprotein lipase |
Synonyms | HDLCQ11,LIPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Lipoprotein lipase deficiency, 238600 (3); Combined hyperlipidemia, familial, 144250 (3); [High density lipoprotein cholesterol level QTL 11] (3) |