4j7u: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_4j7u| PDB=4j7u | SCENE= }} | |||
===Crystal structure of human sepiapterin reductase in complex with sulfathiazole=== | |||
{{ABSTRACT_PUBMED_23704574}} | |||
The | ==Disease== | ||
[[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> | |||
==Function== | |||
[[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. | |||
==About this Structure== | |||
[[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]. | |||
==Reference== | |||
<ref group="xtra">PMID:023704574</ref><references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | |||
[[Category: Johnsson, K.]] | |||
[[Category: Pedersen, M Groenlund.]] | |||
[[Category: Pojer, F.]] | |||
[[Category: Oxidoreductase-antibiotic complex]] | |||
[[Category: Reductase]] | |||