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Genetics Home Reference: your guide to understanding genetic conditions
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PANK2

Reviewed October 2006

What is the official name of the PANK2 gene?

The official name of this gene is “pantothenate kinase 2.”

PANK2 is the gene's official symbol. The PANK2 gene is also known by other names, listed below.

What is the normal function of the PANK2 gene?

The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in specialized cellular structures called mitochondria, which are the cell's energy-producing centers. Within mitochondria, pantothenate kinase 2 regulates the formation of a molecule called coenzyme A. Coenzyme A is found in all living cells, where it is essential for the body's production of energy from carbohydrates, fats, and some protein building blocks (amino acids).

PANK2 is one of four human genes that provide instructions for making versions of pantothenate kinase. The functions of these different versions probably vary among tissue types and parts of the cell. The version produced by the PANK2 gene is active in cells throughout the body, including nerve cells in the brain.

How are changes in the PANK2 gene related to health conditions?

pantothenate kinase-associated neurodegeneration - caused by mutations in the PANK2 gene

About 100 mutations in the PANK2 gene have been identified in people with pantothenate kinase-associated neurodegeneration. Typically, people with the more severe, early-onset form of the disorder have PANK2 mutations that prevent cells from producing any functional pantothenate kinase 2. People affected by the atypical, later-onset form usually have mutations that change single amino acids in the enzyme, which makes the enzyme unstable or disrupts its activity. In some cases, single amino acid changes allow the enzyme to retain some function. The most common PANK2 mutation replaces the amino acid glycine with the amino acid arginine at position 411 of the enzyme (written as Gly411Arg or G411R).

When pantothenate kinase 2 is altered or missing, the normal production of coenzyme A is disrupted and potentially harmful compounds can build up in the brain. This buildup leads to swelling, tissue damage, and an abnormal accumulation of iron in certain areas of the brain. Researchers are uncertain how a lack of functional pantothenate kinase 2 causes the specific features of pantothenate kinase-associated neurodegeneration. Because the enzyme functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.

Mutations in the PANK2 gene are also found in people with a condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration). HARP was historically described as a separate syndrome but is now considered part of pantothenate kinase-associated neurodegeneration. Although HARP is much rarer than classic pantothenate kinase-associated neurodegeneration, both conditions involve problems with movement, dementia, and vision abnormalities.

Where is the PANK2 gene located?

Cytogenetic Location: 20p13

Molecular Location on chromosome 20: base pairs 3,887,609 to 3,923,890

The PANK2 gene is located on the short (p) arm of chromosome 20 at position 13.

The PANK2 gene is located on the short (p) arm of chromosome 20 at position 13.

More precisely, the PANK2 gene is located from base pair 3,887,609 to base pair 3,923,890 on chromosome 20.

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 PANK2?

You and your healthcare professional may find the following resources about PANK2 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 PANK2 gene or gene products?

  • NBIA1
  • PANK2_HUMAN
  • pantothenate kinase 2 (Hallervorden-Spatz syndrome)
  • pantothenic acid kinase

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 PANK2?

acids ; amino acid ; arginine ; atypical ; cell ; CoA ; coenzyme A ; dementia ; enzyme ; gene ; glycine ; iron ; kinase ; mitochondria ; molecule ; mutation ; protein ; syndrome ; tissue

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

References

  • Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 2002;6(5):243-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12374576?dopt=Abstract)
  • Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol. 2005;43(4):286-96. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16416393?dopt=Abstract)
  • Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 2006 Feb;59(2):248-56. (http://www.ncbi.nlm.nih.gov/pubmed/16437574?dopt=Abstract)
  • Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003 Jan 2;348(1):33-40. (http://www.ncbi.nlm.nih.gov/pubmed/12510040?dopt=Abstract)
  • Hayflick SJ. Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). J Neurol Sci. 2003 Mar 15;207(1-2):106-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12614941?dopt=Abstract)
  • Hayflick SJ. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 2003 Dec;15(6):572-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14631201?dopt=Abstract)
  • Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann N Y Acad Sci. 2004 Mar;1012:282-98. (http://www.ncbi.nlm.nih.gov/pubmed/15105273?dopt=Abstract)
  • Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM. Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci. 2005 Jan 19;25(3):689-98. (http://www.ncbi.nlm.nih.gov/pubmed/15659606?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/80025)
  • Ponka P. Hereditary causes of disturbed iron homeostasis in the central nervous system. Ann N Y Acad Sci. 2004 Mar;1012:267-81. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15105272?dopt=Abstract)
  • Zhang YM, Rock CO, Jackowski S. Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration. J Biol Chem. 2006 Jan 6;281(1):107-14. Epub 2005 Nov 3. (http://www.ncbi.nlm.nih.gov/pubmed/16272150?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: October 2006
Published: December 16, 2014