2e1q: Difference between revisions
From Proteopedia
Jump to navigationJump to search
m Protected "2e1q" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_2e1q| PDB=2e1q | SCENE= }} | {{STRUCTURE_2e1q| PDB=2e1q | SCENE= }} | ||
===Crystal Structure of Human Xanthine Oxidoreductase mutant, Glu803Val=== | |||
{{ABSTRACT_PUBMED_17301077}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/XDH_HUMAN XDH_HUMAN]] Defects in XDH are the cause of xanthinuria type 1 (XU1) [MIM:[http://omim.org/entry/278300 278300]]. Xanthinuria is characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XU1 is due to isolated xanthine dehydrogenase. XU1 patients can metabolize allopurinol.<ref>PMID:9153281</ref><ref>PMID:10844591</ref><ref>PMID:11379872</ref><ref>PMID:14551354</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/XDH_HUMAN XDH_HUMAN]] Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro).<ref>PMID:17301077</ref> | |||
==About this Structure== | ==About this Structure== | ||
| Line 14: | Line 16: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017301077</ref><references group="xtra"/> | <ref group="xtra">PMID:017301077</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ichida, K.]] | [[Category: Ichida, K.]] | ||
