3bk0
From Proteopedia
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{{STRUCTURE_3bk0| PDB=3bk0 | SCENE= }} | {{STRUCTURE_3bk0| PDB=3bk0 | SCENE= }} | ||
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===Crystal Structure of Human Orotidine 5'-monophosphate Decarboxylase Complexed with 5-CN-UMP=== | ===Crystal Structure of Human Orotidine 5'-monophosphate Decarboxylase Complexed with 5-CN-UMP=== | ||
| + | ==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]] | ||
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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 01:03, 25 March 2013
Contents |
Crystal Structure of Human Orotidine 5'-monophosphate Decarboxylase Complexed with 5-CN-UMP
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
3bk0 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- ↑ Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet. 1997 Mar;60(3):525-39. PMID:9042911
Categories: Homo sapiens | Orotidine-5'-phosphate decarboxylase | Avina, M E.M. | Kotra, L P. | Liu, Y. | Pai, E F. | Tang, H L. | 5-cn-ump | C-terminal domain | Disease mutation | Glycosyltransferase | Human | Lyase | Multifunctional enzyme | Orotidine 5'-monophosphate decarboxylase | Pyrimidine biosynthesis | Transferase | Ump synthase
