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PANK2

pantothenate kinase 2

The PANK2 gene provides instructions for an enzyme called pantothenate kinase 2, which is vital for cellular energy production within mitochondria. PANK2 is one of four human genes encoding versions of pantothenate kinase, an enzyme critical for the synthesis of coenzyme A.

Chromosome 20p13 Various HGNC:15894 Tier C
PANK2 20p13 p arm q arm 20

PANK2 is located on the short (p) arm of chromosome 20, at band 20p13. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 20 in the library →

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Clinical tests that include this

Carrier Screening panel
PANK2 is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions

Overview

The PANK2 gene codes for pantothenate kinase 2, an enzyme predominantly active within the mitochondria, the cell's powerhouses. This enzyme is essential for regulating the formation of coenzyme A, a molecule found in all living cells.

Coenzyme A is indispensable for the body's energy production, facilitating metabolic processes involving carbohydrates, fats, and certain amino acids. The PANK2-encoded version of pantothenate kinase is present in various cell types throughout the body, including nerve cells in the brain.

What the gene does

The pantothenate kinase 2 enzyme, produced from the PANK2 gene, plays a crucial role in cellular metabolism, specifically within the mitochondria. Its primary function involves regulating the synthesis of coenzyme A, a vital cofactor in numerous biochemical reactions.

Coenzyme A is integral to the metabolism of fatty acids, the citric acid cycle (which produces cellular energy), and the breakdown of various amino acids. By controlling coenzyme A production, PANK2 directly influences the cell's ability to generate energy from different nutrient sources. While other pantothenate kinase versions exist, the PANK2 enzyme is particularly active in cells throughout the body, including neurons, highlighting its broad metabolic importance.

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Chromosome location

The PANK2 gene is located on the short arm of chromosome 20, specifically at band 20p13. This chromosomal region houses genes involved in a variety of cellular processes.

Protein structure

The PANK2 protein consists of 570 amino acids. It features several distinct regions and motifs that contribute to its function. Two disordered regions are located at amino acids 34-94 and 127-198. A nucleolar localisation signal is found between amino acids 82-94, and a nuclear export signal is present at amino acids 268-275.

Domain map · 570 amino acids
Nucleolar localization signal (82–94)Nuclear export signal (268–275)Nucleolar localization82–94Nuclear export signal268–2751~285570
Motif - short conserved sequence
🧬 Explore 3D structure on AlphaFold
UniProt:Q9BZ23Length:570 aaStructure:AlphaFold

Key variants

Variants within the PANK2 gene can alter the function or production of the pantothenate kinase 2 enzyme. These genetic changes can range from small alterations, such as single nucleotide substitutions, to larger deletions or insertions within the gene sequence. The impact of these variants on enzyme activity can vary, leading to different clinical presentations.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for PANK2.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.1061C>G
single nucleotide variant
 p.Pro354Arg Pathogenic/Likely pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.1090_1096del
Deletion
 p.Gly363_Asn364insTer Pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.1172T>A
single nucleotide variant
 p.Ile391Asn Pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.1264C>T
single nucleotide variant
 p.Arg422Trp Pathogenic/Likely pathogenic ★★☆☆ PANK2-related disorder
c.1302dup
Duplication
 p.Gln435fs Pathogenic/Likely pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.440_441insCT
Insertion
 p.Tyr148fs Pathogenic/Likely pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.498_499del
Microsatellite
 p.Cys166fs Pathogenic/Likely pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.635A>G
single nucleotide variant
 p.Glu212Gly Pathogenic/Likely pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.636G>T
single nucleotide variant
 p.Glu212Asp Pathogenic/Likely pathogenic ★★☆☆ Pigmentary pallidal degeneration
c.664C>T
single nucleotide variant
 p.Gln222Ter Pathogenic ★★☆☆ PANK2-related disorder

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the PANK2 gene are primarily associated with an inherited neurological disorder called Pantothenate kinase-associated neurodegeneration. This condition is characterised by progressive neurodegeneration and typically presents with movement disorders. The severity and onset of the condition can depend on the specific genetic variant and its effect on enzyme function.

UK clinical status

PANK2 is included on several NHS Genomic Medicine Service clinical panels, indicating its recognised role in various conditions. It is part of panels for conditions such as Dystonia, chorea or related movement disorder (adult and childhood onset), Early onset dystonia, and Neurodegenerative disorders, adult onset. It is also relevant for Mitochondrial disorders and Structural basal ganglia disorders.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Dystonia, chorea or related movement disorder, childhood onset · R57 NHS GMS → Likely inborn error of metabolism · R98 NHS GMS → Possible mitochondrial disorder, nuclear genes · R63 NHS GMS → Retinal disorders · R32 NHS GMS → Dystonia, chorea or related movement disorder, adult onset NHS GMS → Mitochondrial disorders NHS GMS → Neurodegenerative disorders, adult onset NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the main function of the PANK2 gene?

The PANK2 gene provides instructions for making the pantothenate kinase 2 enzyme, which is critical for regulating the production of coenzyme A. Coenzyme A is essential for various metabolic pathways that generate energy from carbohydrates, fats, and proteins within the body's cells.

Which condition is associated with PANK2 gene variants?

Variants in the PANK2 gene are primarily linked to Pantothenate kinase-associated neurodegeneration. This is a progressive neurological disorder that typically affects movement and can have varying severity depending on the specific genetic changes.

Where is the PANK2 enzyme active in the cell?

The pantothenate kinase 2 enzyme is predominantly active within the mitochondria, which are the primary energy-producing organelles inside cells. It is also active in nerve cells in the brain and other cells throughout the body.

References

  1. Zhang YM, Rock CO, Jackowski S. Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration. The Journal of biological chemistry. 2006. PMID: 16272150
  2. Hartig MB, Hörtnagel K, Garavaglia B. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Annals of neurology. 2006. PMID: 16437574
  3. Kotzbauer PT, Truax AC, Trojanowski JQ. 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. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2005. PMID: 15659606
  4. Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia neuropathologica. 2005. PMID: 16416393
  5. Ponka P. Hereditary causes of disturbed iron homeostasis in the central nervous system. Annals of the New York Academy of Sciences. 2004. PMID: 15105272
  6. Johnson MA, Kuo YM, Westaway SK. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Annals of the New York Academy of Sciences. 2004. PMID: 15105273
  7. Hayflick SJ, Westaway SK, Levinson B. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. The New England journal of medicine. 2003. PMID: 12510040
  8. Hayflick SJ. Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Journal of the neurological sciences. 2003. PMID: 12614941
  9. Hayflick SJ. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Current opinion in pediatrics. 2003. PMID: 14631201
  10. Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2002. PMID: 12374576
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 18 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .