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Genetics Home Reference: your guide to understanding genetic conditions
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LPL

Reviewed January 2008

What is the official name of the LPL gene?

The official name of this gene is “lipoprotein lipase.”

LPL is the gene's official symbol. The LPL gene is also known by other names, listed below.

What is the normal function of the LPL gene?

The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is made primarily in fatty (adipose) tissue and in muscle. It plays a critical role in transporting fats and breaking down fat-carrying molecules called lipoproteins.

Lipoprotein lipase removes fatty substances from two types of lipoproteins: chylomicrons and very low density lipoproteins (VLDLs). After a meal, chylomicrons are formed to carry fat from the intestine into the bloodstream. VLDLs are molecules that circulate in the blood, carrying fat and cholesterol from the liver to other tissues throughout the body. Lipoprotein lipase works with another enzyme (apolipoprotein C-II) to remove fats from chylomicrons and VLDLs. The breakdown of these particles releases fat molecules for energy use or for storage in adipose tissue.

How are changes in the LPL gene related to health conditions?

familial lipoprotein lipase deficiency - caused by mutations in the LPL gene

More than 220 mutations in the LPL gene have been found to cause familial lipoprotein lipase deficiency. The most common mutation changes a single protein building block (amino acid) in lipoprotein lipase. Specifically, the mutation replaces the amino acid glycine with the amino acid glutamic acid at position 188 in the enzyme (written as Gly188Glu or G188E). Mutations in the LPL gene reduce or eliminate the activity of lipoprotein lipase, preventing the enzyme from effectively removing fats from chylomicrons. As a result, fat-laden chylomicrons accumulate in the blood, leading to abdominal pain and the other signs and symptoms of familial lipoprotein lipase deficiency.

other disorders - associated with the LPL gene

Changes in the LPL gene have been shown to play a role in atherosclerosis, a condition in which excess fatty material is deposited in the walls of arteries. The material accumulates and hardens, blocking arteries and increasing the chance of having a heart attack or stroke. Some variants of lipoprotein lipase appear to increase the risk of developing atherosclerosis, while other forms of the enzyme seem to be protective.

Because lipoprotein lipase plays an important role in lipid transport and breakdown, researchers believe that changes in the LPL gene may also be associated with other health problems such as obesity, diabetes, and cachexia (general wasting and weight loss, often due to a chronic illness). Many factors, however, play a part in determining the risk of these complex disorders.

Where is the LPL gene located?

Cytogenetic Location: 8p22

Molecular Location on chromosome 8: base pairs 19,939,070 to 19,967,258

The LPL gene is located on the short (p) arm of chromosome 8 at position 22.

The LPL gene is located on the short (p) arm of chromosome 8 at position 22.

More precisely, the LPL gene is located from base pair 19,939,070 to base pair 19,967,258 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LPL?

You and your healthcare professional may find the following resources about LPL helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LPL gene or gene products?

  • LIPD
  • lipoprotein lipase precursor
  • triacylglycerol protein acylhydrolase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LPL?

adipose tissue ; amino acid ; apolipoprotein ; arteries ; atherosclerosis ; breakdown ; cachexia ; cholesterol ; chronic ; chylomicrons ; deficiency ; diabetes ; enzyme ; familial ; gene ; glutamic acid ; glycine ; heart attack ; intestine ; lipase ; lipid ; lipoprotein ; metabolism ; mutation ; precursor ; protein ; tissue ; triacylglycerol ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Benlian P, De Gennes JL, Foubert L, Zhang H, Gagné SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med. 1996 Sep 19;335(12):848-54. Erratum in: N Engl J Med 1997 Feb 6;336(6):451. (http://www.ncbi.nlm.nih.gov/pubmed/8778602?dopt=Abstract)
  • Evans V, Kastelein JJ. Lipoprotein lipase deficiency--rare or common? Cardiovasc Drugs Ther. 2002 Jul;16(4):283-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12652096?dopt=Abstract)
  • Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. Ann Genet. 2001 Jan-Mar;44(1):25-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11334614?dopt=Abstract)
  • Mead JR, Irvine SA, Ramji DP. Lipoprotein lipase: structure, function, regulation, and role in disease. J Mol Med (Berl). 2002 Dec;80(12):753-69. Epub 2002 Oct 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12483461?dopt=Abstract)
  • Mead JR, Ramji DP. The pivotal role of lipoprotein lipase in atherosclerosis. Cardiovasc Res. 2002 Aug 1;55(2):261-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12123765?dopt=Abstract)
  • Merkel M, Eckel RH, Goldberg IJ. Lipoprotein lipase: genetics, lipid uptake, and regulation. J Lipid Res. 2002 Dec;43(12):1997-2006. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12454259?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4023)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: January 27, 2015