4hkp
From Proteopedia
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{{STRUCTURE_4hkp| PDB=4hkp | SCENE= }} | {{STRUCTURE_4hkp| PDB=4hkp | SCENE= }} | ||
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===Crystal structure of human orotidine 5'-monophosphate decarboxylase complexed with CMP-N3-oxide=== | ===Crystal structure of human orotidine 5'-monophosphate decarboxylase complexed with CMP-N3-oxide=== | ||
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{{ABSTRACT_PUBMED_22991951}} | {{ABSTRACT_PUBMED_22991951}} | ||
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| + | ==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== | ||
[[4hkp]] 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=4HKP OCA]. | [[4hkp]] 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=4HKP OCA]. | ||
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| + | ==See Also== | ||
| + | *[[Phosphoribosyltransferase|Phosphoribosyltransferase]] | ||
| + | *[[Uridine 5'-monophosphate synthase|Uridine 5'-monophosphate synthase]] | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Orotidine-5'-phosphate decarboxylase]] | [[Category: Orotidine-5'-phosphate decarboxylase]] | ||
Revision as of 02:23, 25 March 2013
Contents |
Crystal structure of human orotidine 5'-monophosphate decarboxylase complexed with CMP-N3-oxide
Template:ABSTRACT PUBMED 22991951
Disease
[UMPS_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
4hkp is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
