View source for 1zn9

{{STRUCTURE_1zn9|  PDB=1zn9  |  SCENE=  }} 
===Human Adenine Phosphoribosyltransferase in Apo and AMP Complexed Forms===
{{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==
[[1zn9]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1ZN9 OCA]. 

==See Also==
*[[Phosphoribosyltransferase|Phosphoribosyltransferase]]

==Reference==
<ref group="xtra">PMID:018399692</ref><references group="xtra"/><references/>
[[Category: Adenine phosphoribosyltransferase]]
[[Category: Homo sapiens]]
[[Category: Iulek, J.]]
[[Category: Silva, M.]]
[[Category: Thiemann, O H.]]
[[Category: Tomich, C H.T P.]]
[[Category: Glycosyltransferase]]
[[Category: Purine salvage]]
[[Category: Transferase]]