2p1f: Difference between revisions
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{{STRUCTURE_2p1f| PDB=2p1f | SCENE= }} | {{STRUCTURE_2p1f| PDB=2p1f | SCENE= }} | ||
===Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)=== | ===Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)=== | ||
==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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==See Also== | ==See Also== | ||
*[[Uridine 5'-monophosphate synthase|Uridine 5'-monophosphate synthase]] | *[[Uridine 5'-monophosphate synthase|Uridine 5'-monophosphate synthase]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Liu, Y.]] | [[Category: Liu, Y.]] | ||
Revision as of 09:59, 25 March 2013
Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)
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
2p1f is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.