3dbp
From Proteopedia
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{{STRUCTURE_3dbp| PDB=3dbp | SCENE= }} | {{STRUCTURE_3dbp| PDB=3dbp | SCENE= }} | ||
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===Crystal Structure of Human Orotidine 5'-Monophosphate Decarboxylase Complexed with 6-NH2-UMP=== | ===Crystal Structure of Human Orotidine 5'-Monophosphate Decarboxylase Complexed with 6-NH2-UMP=== | ||
| + | {{ABSTRACT_PUBMED_015258572}} | ||
| - | + | ==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:015258572</ref><references group="xtra"/> | + | <ref group="xtra">PMID:015258572</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Orotidine-5'-phosphate decarboxylase]] | [[Category: Orotidine-5'-phosphate decarboxylase]] | ||
Revision as of 02:42, 25 March 2013
Contents |
Crystal Structure of Human Orotidine 5'-Monophosphate Decarboxylase Complexed with 6-NH2-UMP
Template:ABSTRACT PUBMED 015258572
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
3dbp is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol. 2004 Aug;11(8):770-6. Epub 2004 Jul 18. PMID:15258572 doi:10.1038/nsmb805
- ↑ 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 | Bello, A M. | Kotra, L P. | Liu, Y. | Pai, E F. | To, T. | 6-nh2-ump | Decarboxylase | Disease mutation | Glycosyltransferase | Human | Lyase | Multifunctional enzyme | Orotidine 5'-monophosphate decarboxylase | Pyrimidine biosynthesis | Transferase | Ump synthase
