2cn1

CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC 5'-NUCLEOTIDASE III (NT5C3)(CASP TARGET)CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC 5'-NUCLEOTIDASE III (NT5C3)(CASP TARGET)

DiseaseDisease

[5NT3_HUMAN] Defects in NT5C3 are the cause of P5N deficiency (P5ND) [MIM:266120]; also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5ND is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stipplig and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.

FunctionFunction

[5NT3_HUMAN] Can act both as nucleotidase and as phosphotransferase.

About this StructureAbout this Structure

2cn1 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

ReferenceReference

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↑ Wallden K, Stenmark P, Nyman T, Flodin S, Graslund S, Loppnau P, Bianchi V, Nordlund P. Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition. J Biol Chem. 2007 Jun 15;282(24):17828-36. Epub 2007 Apr 3. PMID:17405878 doi:http://dx.doi.org/10.1074/jbc.M700917200

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OCA

[1] Wallden K, Stenmark P, Nyman T, Flodin S, Graslund S, Loppnau P, Bianchi V, Nordlund P. Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition. J Biol Chem. 2007 Jun 15;282(24):17828-36. Epub 2007 Apr 3. PMID:17405878 doi:http://dx.doi.org/10.1074/jbc.M700917200

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