3hy8

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Template:STRUCTURE 3hy8

Contents 1 Crystal Structure of Human Pyridoxine 5'-Phosphate Oxidase R229W Mutant 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

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

• Pyridoxine 5'-phosphate oxidase

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