4hib: Difference between revisions
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{{STRUCTURE_4hib| PDB=4hib | SCENE= }} | {{STRUCTURE_4hib| PDB=4hib | SCENE= }} | ||
===Crystal structure of human orotidine 5'-monophosphate decarboxylase complexed with CMP-N4-OH=== | ===Crystal structure of human orotidine 5'-monophosphate decarboxylase complexed with CMP-N4-OH=== | ||
{{ABSTRACT_PUBMED_22991951}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/UMPS_HUMAN UMPS_HUMAN]] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:[http://omim.org/entry/258900 258900]]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.<ref>PMID:9042911</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[4hib]] 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=4HIB OCA]. | [[4hib]] 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=4HIB OCA]. | ||
==See Also== | |||
*[[Phosphoribosyltransferase|Phosphoribosyltransferase]] | |||
*[[Uridine 5'-monophosphate synthase|Uridine 5'-monophosphate synthase]] | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Orotidine-5'-phosphate decarboxylase]] | [[Category: Orotidine-5'-phosphate decarboxylase]] | ||
