2cn1: Difference between revisions
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{{STRUCTURE_2cn1| PDB=2cn1 | SCENE= }} | {{STRUCTURE_2cn1| PDB=2cn1 | SCENE= }} | ||
===CRYSTAL STRUCTURE OF HUMAN CYTOSOLIC 5'-NUCLEOTIDASE III (NT5C3)(CASP TARGET)=== | |||
{{ABSTRACT_PUBMED_17405878}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/5NT3_HUMAN 5NT3_HUMAN]] Defects in NT5C3 are the cause of P5N deficiency (P5ND) [MIM:[http://omim.org/entry/266120 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. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/5NT3_HUMAN 5NT3_HUMAN]] Can act both as nucleotidase and as phosphotransferase. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017405878</ref><references group="xtra"/> | <ref group="xtra">PMID:017405878</ref><references group="xtra"/><references/> | ||
[[Category: 5'-nucleotidase]] | [[Category: 5'-nucleotidase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||