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PINK1

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PINK1 gene related to health conditions?

Parkinson disease - caused by mutations in the PINK1 gene

Researchers have identified more than 70 mutations in the PINK1 gene that can cause Parkinson disease, a condition characterized by progressive problems with movement and balance. PINK1 gene mutations are associated with the early-onset form of the disorder, which typically begins before age 50.

Many PINK1 gene mutations alter or eliminate the kinase domain, leading to a loss of protein function. At least one mutation affects the mitochondrial-targeting motif and may disrupt delivery of the protein to mitochondria. With reduced or absent PTEN induced putative kinase 1 activity, mitochondria may malfunction, particularly when cells are stressed. Cells can die if energy is not provided for essential activities. It is unclear how PINK1 gene mutations cause the selective death of nerve cells that characterizes Parkinson disease. The loss of these cells weakens communication between the brain and muscles, and ultimately the brain becomes unable to control muscle movement.

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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?

  • BRPK
  • PARK6
  • PINK1_HUMAN

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 PINK1?

domain ; gene ; kinase ; mitochondria ; motif ; mutation ; protein ; serine ; stress ; testes ; threonine ; threonine kinase

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

References

  • Abou-Sleiman PM, Muqit MM, Wood NW. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci. 2006 Mar;7(3):207-19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16495942?dopt=Abstract)
  • Beilina A, Van Der Brug M, Ahmad R, Kesavapany S, Miller DW, Petsko GA, Cookson MR. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci U S A. 2005 Apr 19;102(16):5703-8. Epub 2005 Apr 11. (http://www.ncbi.nlm.nih.gov/pubmed/15824318?dopt=Abstract)
  • Chu CT. A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson disease. Hum Mol Genet. 2010 Apr 15;19(R1):R28-37. doi: 10.1093/hmg/ddq143. Epub 2010 Apr 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20385539?dopt=Abstract)
  • Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH, Yoo SJ, Hay BA, Guo M. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature. 2006 Jun 29;441(7097):1162-6. Epub 2006 May 3. (http://www.ncbi.nlm.nih.gov/pubmed/16672981?dopt=Abstract)
  • Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol. 2004 Sep;56(3):424-7. Erratum in: Ann Neurol. 2004 Oct;56(4):603. (http://www.ncbi.nlm.nih.gov/pubmed/15349870?dopt=Abstract)
  • Ibáñez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain. 2006 Mar;129(Pt 3):686-94. Epub 2006 Jan 9. (http://www.ncbi.nlm.nih.gov/pubmed/16401616?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/65018)
  • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20506312?dopt=Abstract)
  • Park J, Lee SB, Lee S, Kim Y, Song S, Kim S, Bae E, Kim J, Shong M, Kim JM, Chung J. Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature. 2006 Jun 29;441(7097):1157-61. Epub 2006 May 3. (http://www.ncbi.nlm.nih.gov/pubmed/16672980?dopt=Abstract)
  • Pogson JH, Ivatt RM, Whitworth AJ. Molecular mechanisms of PINK1-related neurodegeneration. Curr Neurol Neurosci Rep. 2011 Jun;11(3):283-90. doi: 10.1007/s11910-011-0187-x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21331528?dopt=Abstract)
  • Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec;61(12):1898-904. (http://www.ncbi.nlm.nih.gov/pubmed/15596610?dopt=Abstract)
  • Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet. 2005 Nov 15;14(22):3477-92. Epub 2005 Oct 5. (http://www.ncbi.nlm.nih.gov/pubmed/16207731?dopt=Abstract)
  • Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004 May 21;304(5674):1158-60. Epub 2004 Apr 15. (http://www.ncbi.nlm.nih.gov/pubmed/15087508?dopt=Abstract)
  • Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol. 2004 Sep;56(3):336-41. (http://www.ncbi.nlm.nih.gov/pubmed/15349860?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: May 2012
Published: July 7, 2014