4m6j: Difference between revisions
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{{STRUCTURE_4m6j| PDB=4m6j | SCENE= }} | |||
===Crystal structure of human dihydrofolate reductase (DHFR) bound to NADPH=== | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/DYR_HUMAN DYR_HUMAN]] Defects in DHFR are the cause of megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:[http://omim.org/entry/613839 613839]]. DHFRD is an inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.<ref>PMID:21310276</ref> <ref>PMID:21310277</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DYR_HUMAN DYR_HUMAN]] Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1.<ref>PMID:21876188</ref> <ref>PMID:12096917</ref> | |||
==About this Structure== | |||
[[4m6j]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4M6J OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Dihydrofolate reductase]] | |||
[[Category: Homo sapiens]] | |||
[[Category: Bhabha, G.]] | |||
[[Category: Ekiert, D C.]] | |||
[[Category: Wilson, I A.]] | |||
[[Category: Wright, P E.]] | |||
[[Category: Folate binding]] | |||
[[Category: Nadph binding]] | |||
[[Category: Oxidoreductase]] | |||
[[Category: Rossmann fold]] |