3ex3
From Proteopedia
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{{STRUCTURE_3ex3| PDB=3ex3 | SCENE= }} | {{STRUCTURE_3ex3| PDB=3ex3 | SCENE= }} | ||
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===human orotidyl-5'-monophosphate decarboxylase in complex with 6-azido-UMP, covalent adduct=== | ===human orotidyl-5'-monophosphate decarboxylase in complex with 6-azido-UMP, covalent adduct=== | ||
+ | {{ABSTRACT_PUBMED_19472232}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/PYR5_HUMAN PYR5_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== | ||
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==Reference== | ==Reference== | ||
- | <ref group="xtra">PMID:019472232</ref><references group="xtra"/> | + | <ref group="xtra">PMID:019472232</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Orotidine-5'-phosphate decarboxylase]] | [[Category: Orotidine-5'-phosphate decarboxylase]] |
Revision as of 22:27, 24 March 2013
Contents |
human orotidyl-5'-monophosphate decarboxylase in complex with 6-azido-UMP, covalent adduct
Template:ABSTRACT PUBMED 19472232
Disease
[PYR5_HUMAN] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM: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.[1]
About this Structure
3ex3 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Heinrich D, Diederichsen U, Rudolph MG. Lys314 is a nucleophile in non-classical reactions of orotidine-5'-monophosphate decarboxylase. Chemistry. 2009 Jul 6;15(27):6619-25. PMID:19472232 doi:10.1002/chem.200900397