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.
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Protein Aliases: alpha lipase; Lipoprotein lipase; LPL; O 1-4-5; Phospholipase A1
Gene Aliases: HDLCQ11; LIPD; LPL
Molecular Function: lipase