2qcc: Difference between revisions
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{{STRUCTURE_2qcc| PDB=2qcc | SCENE= }} | {{STRUCTURE_2qcc| PDB=2qcc | SCENE= }} | ||
===Crystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase, apo form=== | ===Crystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase, apo form=== | ||
{{ABSTRACT_PUBMED_18184586}} | |||
==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:018184586</ref><references group="xtra"/> | <ref group="xtra">PMID:018184586</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Orotidine-5'-phosphate decarboxylase]] | [[Category: Orotidine-5'-phosphate decarboxylase]] | ||
Revision as of 02:14, 25 March 2013
Crystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase, apo formCrystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase, apo form
Template:ABSTRACT PUBMED 18184586
DiseaseDisease
[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 StructureAbout this Structure
2qcc is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Wittmann JG, Heinrich D, Gasow K, Frey A, Diederichsen U, Rudolph MG. Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design. Structure. 2008 Jan;16(1):82-92. PMID:18184586 doi:http://dx.doi.org/10.1016/j.str.2007.10.020