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Gene Review

Spr  -  sepiapterin reductase

Mus musculus

Synonyms: AA409688, ENSMUSG00000071345, Gm10328, SPR, Sepiapterin reductase
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Disease relevance of Spr

  • With regard to human disease, BH(4) deficiency due to autosomal recessive mutations in all enzymes (except sepiapterin reductase) have been described as a cause of hyperphenylalaninaemia [1].
  • In the present study, we have demonstrated that the embryonic fibroblastic cells from a feral-origin strain (SPR) expressed 74 kDa Mx2 protein, which prevented the accumulation of viral transcripts and proteins of hantaviruses when the Mx2 gene was constitutively expressed in transfected Vero cells [2].

High impact information on Spr


Biological context of Spr


Anatomical context of Spr


Associations of Spr with chemical compounds


Other interactions of Spr


Analytical, diagnostic and therapeutic context of Spr


  1. Tetrahydrobiopterin biosynthesis, regeneration and functions. Thöny, B., Auerbach, G., Blau, N. Biochem. J. (2000) [Pubmed]
  2. Mouse Mx2 protein inhibits hantavirus but not influenza virus replication. Jin, H.K., Yoshimatsu, K., Takada, A., Ogino, M., Asano, A., Arikawa, J., Watanabe, T. Arch. Virol. (2001) [Pubmed]
  3. The 1.25 A crystal structure of sepiapterin reductase reveals its binding mode to pterins and brain neurotransmitters. Auerbach, G., Herrmann, A., Gütlich, M., Fischer, M., Jacob, U., Bacher, A., Huber, R. EMBO J. (1997) [Pubmed]
  4. A murine model for human sepiapterin-reductase deficiency. Yang, S., Lee, Y.J., Kim, J.M., Park, S., Peris, J., Laipis, P., Park, Y.S., Chung, J.H., Oh, S.P. Am. J. Hum. Genet. (2006) [Pubmed]
  5. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Epstein, D.J., Vogan, K.J., Trasler, D.G., Gros, P. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  6. Cloning of mouse sepiapterin reductase gene and characterization of its promoter region. Lee, S.W., Park, I.Y., Hahn, Y., Lee, J.E., Seong, C.S., Chung, J.H., Park, Y.S. Biochim. Biophys. Acta (1999) [Pubmed]
  7. Effects of depletion of intracellular tetrahydrobiopterin in murine erythroleukemia cells. Zhuo, S., Fan, S., Kaufman, S. Exp. Cell Res. (1996) [Pubmed]
  8. Mouse sepiapterin reductase: an enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence. Ota, A., Ichinose, H., Nagatsu, T. Biochim. Biophys. Acta (1995) [Pubmed]
  9. Analysis of the tetrahydrobiopterin synthesizing system during maturation of murine reticulocytes. Kerler, F., Hültner, L., Ziegler, I., Katzenmaier, G., Bacher, A. J. Cell. Physiol. (1990) [Pubmed]
  10. Carboxy-PTIO increases the tetrahydrobiopterin level in mouse brain microvascular endothelial cells. Shimizu, S., Ishii, M., Iwasaki, M., Shiota, K., Yamamoto, T., Kiuchi, Y. Jpn. J. Pharmacol. (2001) [Pubmed]
  11. Biosynthesis and metabolism of pterins in peripheral blood mononuclear cells and leukemia lines of man and mouse. Schoedon, G., Troppmair, J., Fontana, A., Huber, C., Curtius, H.C., Niederwieser, A. Eur. J. Biochem. (1987) [Pubmed]
  12. Tetrahydrobiopterin, the cofactor for aromatic amino acid hydroxylases, is synthesized by and regulates proliferation of erythroid cells. Tanaka, K., Kaufman, S., Milstien, S. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  13. Impact of tumour necrosis factor-alpha and interferon-gamma on tetrahydrobiopterin synthesis in murine fibroblasts and macrophages. Werner, E.R., Werner-Felmayer, G., Fuchs, D., Hausen, A., Reibnegger, G., Yim, J.J., Wachter, H. Biochem. J. (1991) [Pubmed]
  14. Peripheral administration of lipopolysaccharide enhances the expression of guanosine triphosphate cyclohydrolase I mRNA in murine locus coeruleus. Kaneko, Y.S., Mori, K., Nakashima, A., Nagatsu, I., Ota, A. Neuroscience (2003) [Pubmed]
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