4j7u

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'''Unreleased structure'''
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{{STRUCTURE_4j7u| PDB=4j7u | SCENE= }}
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===Crystal structure of human sepiapterin reductase in complex with sulfathiazole===
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{{ABSTRACT_PUBMED_23704574}}
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The entry 4j7u is ON HOLD until Paper Publication
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==Disease==
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[[http://www.uniprot.org/uniprot/SPRE_HUMAN SPRE_HUMAN]] Defects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:[http://omim.org/entry/612716 612716]]. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.<ref>PMID:11443547</ref> <ref>PMID:16650784</ref> <ref>PMID:17159114</ref>
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Authors: Groenlund Pedersen, M., Pojer, F., Johnsson, K.
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==Function==
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[[http://www.uniprot.org/uniprot/SPRE_HUMAN SPRE_HUMAN]] Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
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Description: Crystal structure of human sepiapterin reductase in complex with sulfathiazole
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==About this Structure==
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[[4j7u]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4J7U OCA].
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==Reference==
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<ref group="xtra">PMID:023704574</ref><references group="xtra"/><references/>
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[[Category: Homo sapiens]]
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[[Category: Johnsson, K.]]
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[[Category: Pedersen, M Groenlund.]]
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[[Category: Pojer, F.]]
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[[Category: Oxidoreductase-antibiotic complex]]
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[[Category: Reductase]]

Revision as of 15:58, 19 June 2013

Template:STRUCTURE 4j7u

Contents

Crystal structure of human sepiapterin reductase in complex with sulfathiazole

Template:ABSTRACT PUBMED 23704574

Disease

[SPRE_HUMAN] Defects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.[1] [2] [3]

Function

[SPRE_HUMAN] Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.

About this Structure

4j7u is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Haruki H, Pedersen MG, Gorska KI, Pojer F, Johnsson K. Tetrahydrobiopterin biosynthesis as an off-target of sulfa drugs. Science. 2013 May 24;340(6135):987-91. doi: 10.1126/science.1232972. PMID:23704574 doi:10.1126/science.1232972
  1. ↑ Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2):269-77. Epub 2001 Jul 6. PMID:11443547 doi:10.1086/321970
  2. ↑ Abeling NG, Duran M, Bakker HD, Stroomer L, Thony B, Blau N, Booij J, Poll-The BT. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2. PMID:16650784 doi:10.1016/j.ymgme.2006.03.010
  3. ↑ Friedman J, Hyland K, Blau N, MacCollin M. Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology. 2006 Dec 12;67(11):2032-5. PMID:17159114 doi:10.1212/01.wnl.0000247274.21261.b4

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