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LRRK2

LRRK2

Reviewed May 2012

What is the official name of the LRRK2 gene?

The official name of this gene is “leucine-rich repeat kinase 2.”

LRRK2 is the gene's official symbol. The LRRK2 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 LRRK2 gene?

The LRRK2 gene provides instructions for making a protein called dardarin. The LRRK2 gene is active in the brain and other tissues throughout the body.

One segment of the dardarin protein is called a leucine-rich region because it contains a large amount of a protein building block (amino acid) known as leucine. Proteins with leucine-rich regions appear to play a role in activities that require interactions with other proteins, such as transmitting signals or helping to assemble the cell's structural framework (cytoskeleton). Other parts of the dardarin protein are also thought to be involved in protein-protein interactions.

Additional studies indicate that dardarin has an enzyme function known as kinase activity. Proteins with kinase activity assist in the transfer of a phosphate group (a cluster of oxygen and phosphorus atoms) from the energy molecule ATP to amino acids in certain proteins. This phosphate transfer is called phosphorylation, and it is an essential step in turning on and off many cell activities. Dardarin also has a second enzyme function referred to as a GTPase activity. This activity is associated with a region of the protein called the ROC domain. The ROC domain may help control the overall shape of the dardarin protein.

Does the LRRK2 gene share characteristics with other genes?

The LRRK2 gene belongs to a family of genes called PARK (Parkinson disease).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the LRRK2 gene related to health conditions?

Parkinson disease - caused by mutations in the LRRK2 gene

Researchers have identified more than 100 LRRK2 gene mutations in families with late-onset Parkinson disease (the most common form of the disorder, which appears after age 50). These mutations replace single amino acids in the dardarin protein, which affects the protein's structure and function. It is unclear how LRRK2 gene mutations lead to the movement and balance problems characteristic of Parkinson disease.

A mutation that replaces the amino acid arginine with the amino acid glycine at protein position 1441 (written as Arg1441Gly or R1441G) is a relatively common cause of Parkinson disease in the Basque region between France and Spain. The protein name dardarin comes from the Basque word "dardara," which means tremor, a characteristic feature of Parkinson disease.

Studies of several different populations from around the world revealed a common LRRK2 gene mutation in 3 to 7 percent of familial Parkinson disease cases. This mutation replaces the amino acid glycine with the amino acid serine at protein position 2019 (written as Gly2019Ser or G2019S). The incidence of the Gly2019Ser mutation in familial cases is highest among Arabs from North Africa and people of Ashkenazi (eastern and central European) Jewish ancestry, and it is lowest in Asian and northern European populations. This particular mutation has also been reported in 1 to 3 percent of sporadic Parkinson disease cases, in which there is no family history of the disease.

Studies in Chinese and Japanese populations have identified an LRRK2 gene mutation that occurs more frequently in people with Parkinson disease than in people without the disease. This mutation replaces the amino acid glycine with the amino acid arginine at protein position 2385 (written as Gly2385Arg or G2385R). This mutation appears to increase the risk of Parkinson disease among people in these populations.

Where is the LRRK2 gene located?

Cytogenetic Location: 12q12

Molecular Location on chromosome 12: base pairs 40,225,010 to 40,369,284

The LRRK2 gene is located on the long (q) arm of chromosome 12 at position 12.

The LRRK2 gene is located on the long (q) arm of chromosome 12 at position 12.

More precisely, the LRRK2 gene is located from base pair 40,225,010 to base pair 40,369,284 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about LRRK2?

You and your healthcare professional may find the following resources about LRRK2 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 LRRK2 gene or gene products?

  • DRDN
  • LRRK2_HUMAN
  • PARK8
  • RIPK7
  • ROCO2

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 LRRK2?

acids ; amino acid ; arginine ; ATP ; cell ; cytoskeleton ; domain ; enzyme ; familial ; family history ; gene ; glycine ; incidence ; kinase ; leucine ; molecule ; mutation ; oxygen ; phosphate ; phosphorus ; phosphorylation ; protein ; serine ; sporadic ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (15 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.

 
Reviewed: May 2012
Published: July 28, 2014