1zn7: Difference between revisions
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{{STRUCTURE_1zn7| PDB=1zn7 | SCENE= }} | {{STRUCTURE_1zn7| PDB=1zn7 | SCENE= }} | ||
===Human Adenine Phosphoribosyltransferase Complexed with PRPP, ADE and R5P=== | |||
{{ABSTRACT_PUBMED_18399692}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/APT_HUMAN APT_HUMAN]] Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:[http://omim.org/entry/614723 614723]]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.<ref>PMID:1746557</ref><ref>PMID:7915931</ref><ref>PMID:3680503</ref><ref>PMID:3343350</ref><ref>PMID:1353080</ref><ref>PMID:11243733</ref><ref>PMID:15571218</ref><ref>PMID:21635362</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/APT_HUMAN APT_HUMAN]] Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018399692</ref><references group="xtra"/> | <ref group="xtra">PMID:018399692</ref><references group="xtra"/><references/> | ||
[[Category: Adenine phosphoribosyltransferase]] | [[Category: Adenine phosphoribosyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] |