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Genetics Home Reference: your guide to understanding genetic conditions
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LDLR

Reviewed March 2007

What is the official name of the LDLR gene?

The official name of this gene is “low density lipoprotein receptor.”

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

What is the normal function of the LDLR gene?

The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals.

Low-density lipoprotein receptors sit on the outer surface of many types of cells, where they pick up low-density lipoproteins circulating in the bloodstream and transport them into the cell. Once inside the cell, the low-density lipoprotein is broken down to release cholesterol. The cholesterol is then used by the cell, stored, or removed from the body. After low-density lipoprotein receptors drop off their cargo, they are recycled back to the cell surface to pick up more low-density lipoproteins.

Low-density lipoprotein receptors play a critical role in regulating the amount of cholesterol in the blood. They are particularly abundant in the liver, which is the organ responsible for removing most excess cholesterol from the body. The number of low-density lipoprotein receptors on the surface of liver cells determines how quickly cholesterol (in the form of low-density lipoproteins) is removed from the bloodstream.

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

hypercholesterolemia - caused by mutations in the LDLR gene

Mutations in the LDLR gene cause an inherited form of high cholesterol called familial hypercholesterolemia. More than 1,000 mutations have been identified in this gene. Some of these genetic changes reduce the number of low-density lipoprotein receptors produced within cells. Other mutations disrupt the receptor's ability to remove low-density lipoproteins from the blood. As a result, people with mutations in the LDLR gene have very high blood cholesterol levels. As the excess cholesterol circulates through the bloodstream, it is deposited abnormally in tissues such as the skin, tendons, and arteries that supply blood to the heart (coronary arteries). A buildup of cholesterol in the walls of coronary arteries greatly increases a person's risk of having a heart attack.

Most people with familial hypercholesterolemia inherit one altered copy of the LDLR gene from an affected parent and one normal copy of the gene from the other parent. These cases are associated with an increased risk of early heart disease, typically beginning in a person's forties or fifties. Rarely, a person with familial hypercholesterolemia is born with two mutated copies of the LDLR gene. This situation occurs when the person has two affected parents, each of whom passes on one altered copy of the gene. The presence of two LDLR mutations results in a more severe form of hypercholesterolemia that usually appears in childhood.

Where is the LDLR gene located?

Cytogenetic Location: 19p13.2

Molecular Location on chromosome 19: base pairs 11,089,361 to 11,133,829

The LDLR gene is located on the short (p) arm of chromosome 19 at position 13.2.

The LDLR gene is located on the short (p) arm of chromosome 19 at position 13.2.

More precisely, the LDLR gene is located from base pair 11,089,361 to base pair 11,133,829 on chromosome 19.

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 LDLR?

You and your healthcare professional may find the following resources about LDLR 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 LDLR gene or gene products?

  • FHC
  • LDLCQ2
  • LDL receptor
  • LDLR_HUMAN
  • Low density lipoprotein (LDL) receptor
  • low density lipoprotein receptor (familial hypercholesterolemia)

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 LDLR?

arteries ; cell ; cholesterol ; coronary ; familial ; gene ; heart attack ; heterozygous ; homozygous ; inherit ; inherited ; LDL ; lipoprotein ; low-density lipoproteins ; protein ; receptor

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

References

  • Defesche JC. Low-density lipoprotein receptor--its structure, function, and mutations. Semin Vasc Med. 2004 Feb;4(1):5-11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15199428?dopt=Abstract)
  • Goldstein JL, Brown MS. Molecular medicine. The cholesterol quartet. Science. 2001 May 18;292(5520):1310-2. (http://www.ncbi.nlm.nih.gov/pubmed/11360986?dopt=Abstract)
  • Jeon H, Blacklow SC. Structure and physiologic function of the low-density lipoprotein receptor. Annu Rev Biochem. 2005;74:535-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15952897?dopt=Abstract)
  • Kong WJ, Liu J, Jiang JD. Human low-density lipoprotein receptor gene and its regulation. J Mol Med (Berl). 2006 Jan;84(1):29-36. Epub 2005 Nov 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16292665?dopt=Abstract)
  • Marais AD, Firth JC, Blom DJ. Homozygous familial hypercholesterolemia and its management. Semin Vasc Med. 2004 Feb;4(1):43-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15199432?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3949)
  • Ueda M. Familial hypercholesterolemia. Mol Genet Metab. 2005 Dec;86(4):423-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16421993?dopt=Abstract)
  • van Aalst-Cohen ES, Jansen AC, de Jongh S, de Sauvage Nolting PR, Kastelein JJ. Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):31-41. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15199431?dopt=Abstract)

 

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: March 2007
Published: November 17, 2014