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PARK2
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PARK2On this page:
Reviewed May 2012
What is the official name of the PARK2 gene?The official name of this gene is “parkinson protein 2, E3 ubiquitin protein ligase (parkin).” PARK2 is the gene's official symbol. The PARK2 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 PARK2 gene?The PARK2 gene, one of the largest human genes, provides instructions for making a protein called parkin. Parkin plays a role in the cell machinery that breaks down (degrades) unneeded proteins by tagging damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to move unneeded proteins into specialized cell structures known as proteasomes, where the proteins are degraded. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the availability of proteins that are involved in several critical cell activities, such as the timing of cell division and growth. Because of its activity in the ubiquitin-proteasome system, parkin belongs to a group of proteins called E3 ubiquitin ligases. Parkin appears to be involved in the maintenance of mitochondria, the energy-producing centers in cells. However, little is known about its role in mitochondrial function. Research suggests that parkin may help trigger the destruction of mitochondria that are not working properly. Studies of the structure and activity of parkin have led researchers to propose several additional activities for this protein. Parkin may act as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. Parkin may also regulate the supply and release of sacs called synaptic vesicles from nerve cells. Synaptic vesicles contain chemical messengers that transmit signals from one nerve cell to another. Does the PARK2 gene share characteristics with other genes?The PARK2 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 PARK2 gene related to health conditions?
Where is the PARK2 gene located?Cytogenetic Location: 6q25.2-q27 Molecular Location on chromosome 6: base pairs 161,768,589 to 163,148,833 The PARK2 gene is located on the long (q) arm of chromosome 6 between positions 25.2 and 27. More precisely, the PARK2 gene is located from base pair 161,768,589 to base pair 163,148,833 on chromosome 6. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about PARK2?You and your healthcare professional may find the following resources about PARK2 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 PARK2 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 PARK2?autosomal ; autosomal recessive ; bacteria ; cancer ; cell ; cell division ; chromosome ; colorectal ; DNA ; dopamine ; gene ; glioblastoma ; infection ; juvenile ; ligase ; mitochondria ; molecule ; mutation ; mycobacteria ; nerve cell ; nucleotide ; ovarian ; polymorphism ; proteasome ; protein ; rearrangement ; recessive ; sign ; susceptibility ; symptom ; synaptic vesicles ; tumor ; ubiquitin ; vesicle You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology.
References (14 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. |