1pl0: Difference between revisions
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{{STRUCTURE_1pl0| PDB=1pl0 | SCENE= }} | {{STRUCTURE_1pl0| PDB=1pl0 | SCENE= }} | ||
===Crystal structure of human ATIC in complex with folate-based inhibitor, BW2315U89UC=== | |||
{{ABSTRACT_PUBMED_14966129}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PUR9_HUMAN PUR9_HUMAN]] Defects in ATIC are the cause of AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:[http://omim.org/entry/608688 608688]]. A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.<ref>PMID:14966129</ref><ref>PMID:15114530</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PUR9_HUMAN PUR9_HUMAN]] Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.<ref>PMID:14966129</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:014966129</ref><references group="xtra"/> | <ref group="xtra">PMID:014966129</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Beardsley, G P.]] | [[Category: Beardsley, G P.]] | ||
