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Gene Review

PANK2  -  pantothenate kinase 2

Homo sapiens

Synonyms: C20orf48, FLJ11729, HARP, HSS, NBIA1, ...
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Disease relevance of PANK2


Psychiatry related information on PANK2


High impact information on PANK2


Chemical compound and disease context of PANK2

  • Bezafibrate (BF), a hypolipidemic drug and a peroxisome proliferator activator receptor-alpha (PPARalpha) agonist, specifically increased hPANK1alpha mRNA expression in human hepatoblastoma (HepG2) cells as a function of time and dose of the drug, compared with hPANK1beta, hPANK2, and hPANK3, which did not significantly increase [11].
  • To determine sensitivity and specificity for detection of haemodynamically significant stenoses (HSS; >50% reduction of luminal diameter) MR angiograms were compared with intra-arterial digital subtraction angiography (IA DSA), which was considered the standard of reference [12].
  • Chickens in the MSS environment, compared with those on the HSS and LSS environments, had greater weight gains, superior feed efficiencies, medium plasma corticosterone levels, a better negative correlation between antibody responsiveness and RBC antigens, and better resistance to Mycoplasma gallisepticum challenge [13].

Biological context of PANK2


Anatomical context of PANK2


Associations of PANK2 with chemical compounds

  • Moreover, sequencing in seven INAD families revealed no mutations in PANK2 or in other genes of CoA biogenesis [21].
  • We report on a patient with late-onset, pantothenate kinase-associated neurodegeneration (PKAN) who revealed two new heterozygous mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission computed tomography, possibly due to prolonged neuroleptic treatment [22].
  • In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357 [23].
  • The effects of hHSS in reversing the lethality of D-galactosamine (1.6 gm/kg body weight)-induced hepatic necrosis in rats were further evaluated [24].
  • Western blot analysis demonstrated high-molecular weight alphaS aggregates in the high-salt-soluble and Triton X-100-insoluble/sodium dodecyl sulfate-soluble fraction of the NBIA 1 brain [20].

Other interactions of PANK2

  • To date, 2 genetic forms have been associated with mutations in PANK2 and PLA2G6, both of which encode proteins that are critical to membrane integrity [25].
  • The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) who has two compound heterozygote mutations of the PANK2 gene [26].
  • These results suggest that NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity [27].
  • Here we show that there is an accumulation of alpha-synuclein (alphaS) in LB-like inclusions, glial inclusions, and spheroids in the brains of three NBIA 1 patients [20].

Analytical, diagnostic and therapeutic context of PANK2


  1. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Zhou, B., Westaway, S.K., Levinson, B., Johnson, M.A., Gitschier, J., Hayflick, S.J. Nat. Genet. (2001) [Pubmed]
  2. Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. Klopstock, T., Elstner, M., Lücking, C.B., Müller-Myhsok, B., Gasser, T., Botz, E., Lichtner, P., Hörtnagel, K. Neurosci. Lett. (2005) [Pubmed]
  3. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Thomas, M., Hayflick, S.J., Jankovic, J. Mov. Disord. (2004) [Pubmed]
  4. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Hayflick, S.J. Curr. Opin. Pediatr. (2003) [Pubmed]
  5. Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. Yamashita, S., Maeda, Y., Ohmori, H., Uchida, Y., Hirano, T., Yonemura, K., Uyama, E., Uchino, M. J. Neurol. Sci. (2004) [Pubmed]
  6. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Neumann, M., Adler, S., Schlüter, O., Kremmer, E., Benecke, R., Kretzschmar, H.A. Acta Neuropathol. (2000) [Pubmed]
  7. Reliability and validity of the Wisconsin HSS Quality Of Life inventory in traumatic brain injury. Collins, R., Lanham, R.A., Sigford, B.J. The Journal of head trauma rehabilitation. (2000) [Pubmed]
  8. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Levy-Nissenbaum, E., Betz, R.C., Frydman, M., Simon, M., Lahat, H., Bakhan, T., Goldman, B., Bygum, A., Pierick, M., Hillmer, A.M., Jonca, N., Toribio, J., Kruse, R., Dewald, G., Cichon, S., Kubisch, C., Guerrin, M., Serre, G., Nöthen, M.M., Pras, E. Nat. Genet. (2003) [Pubmed]
  9. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Kuo, Y.M., Duncan, J.L., Westaway, S.K., Yang, H., Nune, G., Xu, E.Y., Hayflick, S.J., Gitschier, J. Hum. Mol. Genet. (2005) [Pubmed]
  10. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hörtnagel, K., Prokisch, H., Meitinger, T. Hum. Mol. Genet. (2003) [Pubmed]
  11. PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression. Ramaswamy, G., Karim, M.A., Murti, K.G., Jackowski, S. J. Lipid Res. (2004) [Pubmed]
  12. Multicenter phase-II trial of safety and efficacy of NC100150 for steady-state contrast-enhanced peripheral magnetic resonance angiography. Leiner, T., Ho, K.Y., Ho, V.B., Bongartz, G., Mali, W.P., Rasch, W., van Engelshoven, J.M. European radiology. (2003) [Pubmed]
  13. Long-term exposure of chickens to three levels of social stress. Gross, W.B., Siegel, P.B. Avian Dis. (1981) [Pubmed]
  14. Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome. Molinuevo, J.L., Martí, M.J., Blesa, R., Tolosa, E. Mov. Disord. (2003) [Pubmed]
  15. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Gordon, N. Eur. J. Paediatr. Neurol. (2002) [Pubmed]
  16. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Hartig, M.B., Hörtnagel, K., Garavaglia, B., Zorzi, G., Kmiec, T., Klopstock, T., Rostasy, K., Svetel, M., Kostic, V.S., Schuelke, M., Botz, E., Weindl, A., Novakovic, I., Nardocci, N., Prokisch, H., Meitinger, T. Ann. Neurol. (2006) [Pubmed]
  17. Rare causes of hereditary iron overload. Ponka, P. Semin. Hematol. (2002) [Pubmed]
  18. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. Hayflick, S.J., Hartman, M., Coryell, J., Gitschier, J., Rowley, H. AJNR. American journal of neuroradiology. (2006) [Pubmed]
  19. Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. Zhang, Y.H., Tang, B.S., Zhao, A.L., Xia, K., Long, Z.G., Guo, J.F., Westaway, S.K., Hayflick, S.J. Mov. Disord. (2005) [Pubmed]
  20. Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology. Galvin, J.E., Giasson, B., Hurtig, H.I., Lee, V.M., Trojanowski, J.Q. Am. J. Pathol. (2000) [Pubmed]
  21. Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. Hörtnagel, K., Nardocci, N., Zorzi, G., Garavaglia, B., Botz, E., Meitinger, T., Klopstock, T. Neurology (2004) [Pubmed]
  22. Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration. Antonini, A., Goldwurm, S., Benti, R., Prokisch, H., Ebhardt, M., Cilia, R., Zini, M., Righini, A., Cossu, G., Pezzoli, G. Mov. Disord. (2006) [Pubmed]
  23. Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern. Valentino, P., Annesi, G., Cirò Candiano, I.C., Annesi, F., Civitelli, D., Tarantino, P., Naso, F., Spadafora, P., Carrideo, S., De Marco, E.V., Consoli, D., Zappia, M., Gambardella, A., Quattrone, A. Mov. Disord. (2006) [Pubmed]
  24. Human hepatic regenerative stimulator substance: partial purification and biological characterization of hepatic stimulator substance from human fetal liver cells. Yao, Z.Q., Yang, W.S., Zhang, W.B., Chen, Y.N., Yang, F.Y. Hepatology (1990) [Pubmed]
  25. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Hayflick, S.J. Seminars in pediatric neurology (2006) [Pubmed]
  26. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Houlden, H., Lincoln, S., Farrer, M., Cleland, P.G., Hardy, J., Orrell, R.W. Neurology (2003) [Pubmed]
  27. 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. Kotzbauer, P.T., Truax, A.C., Trojanowski, J.Q., Lee, V.M. J. Neurosci. (2005) [Pubmed]
  28. Progressive dystonia in a 12-year-old boy. Klepper, J., Schaper, J., Raca, G., Coryell, J., Das, S., Hayflick, S.J., Voit, T. Eur. J. Paediatr. Neurol. (2003) [Pubmed]
  29. [123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene. Cossu, G., Cella, C., Melis, M., Antonini, A., Floris, G.L., Ruffini, L., Spissu, A. Neurology (2005) [Pubmed]
  30. First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene. Zumrová, A., Krepelová, A., Kyncl, M., Maríková, T., Prosková, M., Cíbochová, R., Sebronová, V., Komárek, V. Neuro Endocrinol. Lett. (2005) [Pubmed]
  31. Clinical and functional comparison of uni- and bicondylar sledge prostheses. Fuchs, S., Tibesku, C.O., Frisse, D., Genkinger, M., Laass, H., Rosenbaum, D. Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA. (2005) [Pubmed]
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