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Gene Review

Pts  -  6-pyruvoyl-tetrahydropterin synthase

Mus musculus

Synonyms: 6-pyruvoyl tetrahydrobiopterin synthase, PTP synthase, PTPS
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Disease relevance of Pts


High impact information on Pts

  • Thus, the majority of Pts seem to originate from the interior of the MK, and the surface membranes of the two cells differ in origin and structure [3].
  • The origin of platelets (Pt) from megakaryocytes (MK) is beyond question, but the mechanism whereby Pts are released from the precursor cell is still debated [3].
  • The observations do not only throw new light on the process of thrombocytopoiesis, but also strengthen the possibility that MKs and Pts may be subject to different stimuli [3].
  • Accordingly, Pts would be derived mostly from the periphery of the MK, and the MK and Pt plasma membranes would have to be virtually identical [3].
  • Enhancement of 6-pyruvoyl tetrahydropterin synthase activity is detectable 6 h after exposure to DMSO and continues to increase in the 3-day time period to 2.4-fold and 1.8-fold levels in subclones B8/3 and F4N, respectively [4].

Biological context of Pts

  • Furthermore, localization studies in transgenic mice expressing a Pts-LacZ gene fusion containing the N-terminal 35 amino acids of PTPS revealed beta-galactosidase in the nucleus of neurons [5].
  • BH4 deficiency due to autosomal recessive mutations in the human gene for PTPS leads to a broad range of phenotypes ranging from mild hyperphenylalaninemia to high phenylalanine levels concomitant with neurotransmitter depletion [6].
  • The expression levels of Spg21 and Pts genes that, like the beta4 gene, are localized on mouse chromosome 9, as well as the expression levels of other genes located on this chromosome, were dependent on the mouse background strain [2].

Anatomical context of Pts

  • In contrast, PTPS-beta-galactosidase was exclusively cytoplasmic in the convoluted kidney tubules but nuclear in other parts of the nephron, indicating again that nuclear targeting may occur only in specific cell categories [5].

Associations of Pts with chemical compounds


Other interactions of Pts


Analytical, diagnostic and therapeutic context of Pts

  • Upon daily oral administration of BH4 and neurotransmitter precursors the Pts-/- mice eventually survived [1].
  • An animal model to study PTPS deficiency is thus desired to investigate the molecular basis of the disease and its variability [6].


  1. Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. Elzaouk, L., Leimbacher, W., Turri, M., Ledermann, B., Burki, K., Blau, N., Thony, B. J. Biol. Chem. (2003) [Pubmed]
  2. Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain? Kedmi, M., Orr-Urtreger, A. Physiol. Genomics (2007) [Pubmed]
  3. Thrombocytopoiesis--analysis by membrane tracer and freeze-fracture studies on fresh human and cultured mouse megakaryocytes. Zucker-Franklin, D., Petursson, S. J. Cell Biol. (1984) [Pubmed]
  4. Synthesis of tetrahydrobiopterin in Friend erythroleukemia cells and its modulator effect on cell proliferation. Kerler, F., Ziegler, I., Schmid, C., Bacher, A. Exp. Cell Res. (1990) [Pubmed]
  5. Nuclear localization of tetrahydrobiopterin biosynthetic enzymes. Elzaouk, L., Laufs, S., Heerklotz, D., Leimbacher, W., Blau, N., Résibois, A., Thöny, B. Biochim. Biophys. Acta (2004) [Pubmed]
  6. Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. Turri, M.O., Ilg, E.C., Thöny, B., Blau, N. Biol. Chem. (1998) [Pubmed]
  7. Tetrahydrobiopterin biosynthesis, regeneration and functions. Thöny, B., Auerbach, G., Blau, N. Biochem. J. (2000) [Pubmed]
  8. Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. Sumi-Ichinose, C., Urano, F., Shimomura, A., Sato, T., Ikemoto, K., Shiraishi, H., Senda, T., Ichinose, H., Nomura, T. J. Neurochem. (2005) [Pubmed]
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