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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.
Read more about gene names and symbols on the About page.
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?
Where is the LDLR gene located?
Cytogenetic Location: 19p13.2
Molecular Location on chromosome 19: base pairs 11,200,037 to 11,244,505
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 11,200,037 to base pair 11,244,505 on chromosome 19.
See How do geneticists indicate the location of a gene? 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?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding LDLR?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
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? in the Handbook.