2a0y: Difference between revisions
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{{STRUCTURE_2a0y| PDB=2a0y | SCENE= }} | {{STRUCTURE_2a0y| PDB=2a0y | SCENE= }} | ||
===Structure of human purine nucleoside phosphorylase H257D mutant=== | |||
{{ABSTRACT_PUBMED_17407325}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PNPH_HUMAN PNPH_HUMAN]] Defects in PNP are the cause of purine nucleoside phosphorylase deficiency (PNPD) [MIM:[http://omim.org/entry/613179 613179]]. It leads to a severe T-cell immunodeficiency with neurologic disorder in children.<ref>PMID:3029074</ref><ref>PMID:1384322</ref><ref>PMID:8931706</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PNPH_HUMAN PNPH_HUMAN]] The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.<ref>PMID:2104852</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017407325</ref><references group="xtra"/> | <ref group="xtra">PMID:017407325</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Purine-nucleoside phosphorylase]] | [[Category: Purine-nucleoside phosphorylase]] | ||
