- SPR (gene)
Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase), also known as SPR, is a human
gene .cite web | title = Entrez Gene: SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6697| accessdate = ]PBB_Summary
section_title =
summary_text = Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) catalyzes the NADPH-dependent reduction of various carbonyl substances, including derivatives of pteridines, and belongs to a group of enzymes called aldo-keto reductases. SPR plays an important role in the biosynthesis of tetrahydrobiopterin (see MIM 261640). [supplied by OMIM] cite web | title = Entrez Gene: SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6697| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Ichinose H, Katoh S, Sueoka T, "et al." |title=Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis. |journal=Biochem. Biophys. Res. Commun. |volume=179 |issue= 1 |pages= 183–9 |year= 1991 |pmid= 1883349 |doi=
*cite journal | author=Takikawa S, Curtius HC, Redweik U, "et al." |title=Biosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver. |journal=Eur. J. Biochem. |volume=161 |issue= 2 |pages= 295–302 |year= 1987 |pmid= 3536512 |doi=
*cite journal | author=Thöny B, Heizmann CW, Mattei MG |title=Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization. |journal=Genomics |volume=26 |issue= 1 |pages= 168–70 |year= 1995 |pmid= 7782081 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Maier J, Schott K, Werner T, "et al." |title=Northern blot analysis of sepiapterin reductase mRNA in mammalian cell lines and tissues. |journal=Adv. Exp. Med. Biol. |volume=338 |issue= |pages= 195–8 |year= 1994 |pmid= 8304109 |doi=
*cite journal | author=Maier J, Schott K, Werner T, "et al." |title=Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species. |journal=Exp. Cell Res. |volume=204 |issue= 2 |pages= 217–22 |year= 1993 |pmid= 8440319 |doi= 10.1006/excr.1993.1027
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Blau N, Thöny B, Renneberg A, "et al." |title=Dihydropteridine reductase deficiency localized to the central nervous system. |journal=J. Inherit. Metab. Dis. |volume=21 |issue= 4 |pages= 433–4 |year= 1998 |pmid= 9700606 |doi=
*cite journal | author=Ohye T, Hori TA, Katoh S, "et al." |title=Genomic organization and chromosomal localization of the human sepiapterin reductase gene. |journal=Biochem. Biophys. Res. Commun. |volume=251 |issue= 2 |pages= 597–602 |year= 1998 |pmid= 9792819 |doi= 10.1006/bbrc.1998.9503
*cite journal | author=Blau N, Thöny B, Renneberg A, "et al." |title=Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. |journal=J. Inherit. Metab. Dis. |volume=22 |issue= 3 |pages= 216–20 |year= 1999 |pmid= 10384371 |doi=
*cite journal | author=Bonafé L, Thöny B, Penzien JM, "et al." |title=Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. |journal=Am. J. Hum. Genet. |volume=69 |issue= 2 |pages= 269–77 |year= 2001 |pmid= 11443547 |doi=
*cite journal | author=Fujimoto K, Takahashi SY, Katoh S |title=Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca2+/calmodulin-dependent protein kinase II. |journal=Biochim. Biophys. Acta |volume=1594 |issue= 1 |pages= 191–8 |year= 2002 |pmid= 11825621 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Franscini N, Bachli EB, Blau N, "et al." |title=Functional tetrahydrobiopterin synthesis in human platelets. |journal=Circulation |volume=110 |issue= 2 |pages= 186–92 |year= 2005 |pmid= 15197144 |doi= 10.1161/01.CIR.0000134281.82972.57
*cite journal | author=Steinberger D, Blau N, Goriuonov D, "et al." |title=Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. |journal=Neurogenetics |volume=5 |issue= 3 |pages= 187–90 |year= 2005 |pmid= 15241655 |doi= 10.1007/s10048-004-0182-3
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Sharma M, Mueller JC, Zimprich A, "et al." |title=The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. |journal=J. Med. Genet. |volume=43 |issue= 7 |pages= 557–62 |year= 2006 |pmid= 16443856 |doi= 10.1136/jmg.2005.039149
*cite journal | author=Farrugia R, Scerri CA, Montalto SA, "et al." |title=Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. |journal=Mol. Genet. Metab. |volume=90 |issue= 3 |pages= 277–83 |year= 2007 |pmid= 17188538 |doi= 10.1016/j.ymgme.2006.10.013
*cite journal | author=Tobin JE, Cui J, Wilk JB, "et al." |title=Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. |journal=Brain Res. |volume=1139 |issue= |pages= 42–7 |year= 2007 |pmid= 17270157 |doi= 10.1016/j.brainres.2007.01.001PBB_Controls
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