Mutation:LPL

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UCSD GoldenPath
Gene Reviews online

Lipoprotein Lipase (LPL)

Chromosomal Location

8p22

LPL encodes lipoprotein lipase, which has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Abnormality of LPL and the related apolipoprotein C-II system causes Type I hyperlipoproteinemia, while more complicated mechanism with environmental factors causes type V hyperlipoproteinemia. Both hyperlipoproteinemia are relatively rare, and underlie disorders of acute pancreatitis.

Statistics

Registered number of mutations ... 0

• Single nucleotide substitution ... 0
• Deletion ... 0
• Insertion ... 0
• Deletion & Insertion ... 0

Mutation at each exon

ex1	ex2	ex3	ex4	ex5	ex6	ex7	ex8	ex9
0	0	0	0	0	0	0	0	0