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Gene Review

PANK1  -  pantothenate kinase 1

Homo sapiens

Synonyms: MGC24596, PANK, PANK1a, PANK1b, Pantothenate kinase 1, ...
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Disease relevance of PANK1


High impact information on PANK1


Chemical compound and disease context of PANK1


Biological context of PANK1


Anatomical context of PANK1


Associations of PANK1 with chemical compounds

  • Pantothenate kinase (PanK) is thought to catalyze the first rate-limiting step in CoA biosynthesis [18].
  • Recently a defect in pantothenate kinase, the key regulatory enzyme in the synthesis of coenzyme A from pantothenate, has been identified as the cause of the disease [19].
  • One active peak of this enzyme was further purified on Cibacron blue 3GA to yield a preparation containing pantothenate kinase enriched to 20% of the total protein within the fraction [20].
  • We report a case of pantothenate kinase-associated neurodegeneration with increased regional cerebral blood flow (rCBF) in bilateral lentiform nuclei on technetium Tc-99m ethyl cysteinate dimer single-photon emission CT (ECD-SPECT) [21].
  • Further experiments demonstrated a linear increase in pantothenate kinase activity during spinach seed germination, consistent with a role for this enzyme in the developmental utilization of seed triacylglycerol [20].

Other interactions of PANK1


Analytical, diagnostic and therapeutic context of PANK1


  1. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Hayflick, S.J. Curr. Opin. Pediatr. (2003) [Pubmed]
  2. 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]
  3. 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]
  4. 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]
  5. Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine. Leonardi, R., Rock, C.O., Jackowski, S., Zhang, Y.M. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  6. 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]
  7. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hörtnagel, K., Prokisch, H., Meitinger, T. Hum. Mol. Genet. (2003) [Pubmed]
  8. 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]
  9. Transport and metabolism of the essential vitamin pantothenic acid in human erythrocytes infected with the malaria parasite Plasmodium falciparum. Saliba, K.J., Horner, H.A., Kirk, K. J. Biol. Chem. (1998) [Pubmed]
  10. Electrophysiological assessment of the effect of intrathecal baclofen in dystonic children. Dachy, B., Dan, B. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2004) [Pubmed]
  11. 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]
  12. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Gordon, N. Eur. J. Paediatr. Neurol. (2002) [Pubmed]
  13. A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. Rump, P., Lemmink, H.H., Verschuuren-Bemelmans, C.C., Grootscholten, P.M., Fock, J.M., Hayflick, S.J., Westaway, S.K., Vos, Y.J., van Essen, A.J. Neurogenetics (2005) [Pubmed]
  14. 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]
  15. Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation. Liang, T.W., Truax, A.C., Trojanowski, J.Q., Lee, V.M., Stern, M.B., Kotzbauer, P.T. Mov. Disord. (2006) [Pubmed]
  16. Coenzyme A metabolism. Robishaw, J.D., Neely, J.R. Am. J. Physiol. (1985) [Pubmed]
  17. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. Hayflick, S.J., Westaway, S.K., Levinson, B., Zhou, B., Johnson, M.A., Ching, K.H., Gitschier, J. N. Engl. J. Med. (2003) [Pubmed]
  18. 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]
  19. 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]
  20. Coenzyme A biosynthesis in plants: partial purification and characterization of pantothenate kinase from spinach. Falk, K.L., Guerra, D.J. Arch. Biochem. Biophys. (1993) [Pubmed]
  21. Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow. Koyama, M., Yagishita, A. AJNR. American journal of neuroradiology. (2006) [Pubmed]
  22. Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration. Krause, M., Fogel, W., Tronnier, V., Pohle, S., H??rtnagel, K., Thyen, U., Volkmann, J. Mov. Disord. (2006) [Pubmed]
  23. Neurodegeneration with brain iron accumulation. Gregory, A., Hayflick, S.J. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences. (2005) [Pubmed]
  24. Neurodegenerative disease and iron storage in the brain. Thomas, M., Jankovic, J. Curr. Opin. Neurol. (2004) [Pubmed]
  25. Neurologic phenotypes associated with acanthocytosis. Walker, R.H., Jung, H.H., Dobson-Stone, C., Rampoldi, L., Sano, A., Tison, F., Danek, A. Neurology (2007) [Pubmed]
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