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Reviewed May 2012
What is the official name of the PINK1 gene?
The official name of this gene is “PTEN induced putative kinase 1.”
PINK1 is the gene's official symbol. The PINK1 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 PINK1 gene?
The PINK1 gene provides instructions for making a protein called PTEN induced putative kinase 1. This protein is found in cells throughout the body, with highest levels in the heart, muscles, and testes. Within cells, the protein is located in the mitochondria, the energy-producing centers that provide power for cellular activities. The function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands.
Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly. One region, called the mitochondrial-targeting motif, serves as a delivery address: after the protein is made, this motif helps ensure that it is delivered to the mitochondria. Another region, called the kinase domain, probably carries out the protein's protective function.
Does the PINK1 gene share characteristics with other genes?
The PINK1 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 PINK1 gene related to health conditions?
Where is the PINK1 gene located?
Cytogenetic Location: 1p36
Molecular Location on chromosome 1: base pairs 20,633,454 to 20,651,510
The PINK1 gene is located on the short (p) arm of chromosome 1 at position 36.
More precisely, the PINK1 gene is located from base pair 20,633,454 to base pair 20,651,510 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PINK1?
You and your healthcare professional may find the following resources about PINK1 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 PINK1 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 PINK1?
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.