3hy8: Difference between revisions
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{{STRUCTURE_3hy8| PDB=3hy8 | SCENE= }} | {{STRUCTURE_3hy8| PDB=3hy8 | SCENE= }} | ||
===Crystal Structure of Human Pyridoxine 5'-Phosphate Oxidase R229W Mutant=== | |||
{{ABSTRACT_PUBMED_19759001}} | |||
=== | ==Disease== | ||
[[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. | |||
==Function== | |||
[[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== | ||
<ref group="xtra">PMID:019759001</ref><references group="xtra"/> | <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
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
