2p1f

Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)

Structural highlights

2p1f is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:	, ,
NonStd Res:
Related:	2eaw
Gene:	UMPS (HUMAN)
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum

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]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ 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

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OCA

[1] 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

[1]

2p1f

Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)

Structural highlights

Disease

Evolutionary Conservation

See Also

References

Contents

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2p1f

Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)

Structural highlights

Disease

Evolutionary Conservation

See Also

References

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