1eyb: Difference between revisions
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{{STRUCTURE_1eyb| PDB=1eyb | SCENE= }} | {{STRUCTURE_1eyb| PDB=1eyb | SCENE= }} | ||
===CRYSTAL STRUCTURE OF APO HUMAN HOMOGENTISATE DIOXYGENASE=== | ===CRYSTAL STRUCTURE OF APO HUMAN HOMOGENTISATE DIOXYGENASE=== | ||
{{ABSTRACT_PUBMED_10876237}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/HGD_HUMAN HGD_HUMAN]] Defects in HGD are the cause of alkaptonuria (AKU) [MIM:[http://omim.org/entry/203500 203500]]. AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.<ref>PMID:8782815</ref><ref>PMID:9154114</ref><ref>PMID:9529363</ref><ref>PMID:9630082</ref><ref>PMID:10205262</ref><ref>PMID:10340975</ref><ref>PMID:10482952</ref><ref>PMID:10594001</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010876237</ref><references group="xtra"/> | <ref group="xtra">PMID:010876237</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Homogentisate 1,2-dioxygenase]] | [[Category: Homogentisate 1,2-dioxygenase]] | ||
