3hy8

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[[Image:3hy8.png|left|200px]]
 
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{{STRUCTURE_3hy8| PDB=3hy8 | SCENE= }}
{{STRUCTURE_3hy8| PDB=3hy8 | SCENE= }}
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===Crystal Structure of Human Pyridoxine 5'-Phosphate Oxidase R229W Mutant===
===Crystal Structure of Human Pyridoxine 5'-Phosphate Oxidase R229W Mutant===
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{{ABSTRACT_PUBMED_19759001}}
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{{ABSTRACT_PUBMED_19759001}}
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==Disease==
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[[http://www.uniprot.org/uniprot/PNPO_HUMAN PNPO_HUMAN]] Defects in PNPO are the cause of pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:[http://omim.org/entry/610090 610090]]; also known as PNPO-related neonatal epileptic encephalopathy. The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine.
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==Function==
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[[http://www.uniprot.org/uniprot/PNPO_HUMAN PNPO_HUMAN]] Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).<ref>PMID:12824491</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:019759001</ref><references group="xtra"/>
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<ref group="xtra">PMID:019759001</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Pyridoxal 5'-phosphate synthase]]
[[Category: Pyridoxal 5'-phosphate synthase]]

Revision as of 09:16, 24 March 2013

Template:STRUCTURE 3hy8

Contents

Crystal Structure of Human Pyridoxine 5'-Phosphate Oxidase R229W Mutant

Template:ABSTRACT PUBMED 19759001

Disease

[PNPO_HUMAN] Defects in PNPO are the cause of pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]; also known as PNPO-related neonatal epileptic encephalopathy. The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine.

Function

[PNPO_HUMAN] Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).[1]

About this Structure

3hy8 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Musayev FN, Di Salvo ML, Saavedra MA, Contestabile R, Ghatge MS, Haynes A, Schirch V, Safo MK. Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder. J Biol Chem. 2009 Nov 6;284(45):30949-56. Epub 2009 Sep 15. PMID:19759001 doi:10.1074/jbc.M109.038372
  1. ↑ Musayev FN, Di Salvo ML, Ko TP, Schirch V, Safo MK. Structure and properties of recombinant human pyridoxine 5'-phosphate oxidase. Protein Sci. 2003 Jul;12(7):1455-63. PMID:12824491

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