1li4: Difference between revisions
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{{STRUCTURE_1li4| PDB=1li4 | SCENE= }} | {{STRUCTURE_1li4| PDB=1li4 | SCENE= }} | ||
===Human S-adenosylhomocysteine hydrolase complexed with neplanocin=== | |||
{{ABSTRACT_PUBMED_12590576}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SAHH_HUMAN SAHH_HUMAN]] Defects in AHCY are the cause of hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:[http://omim.org/entry/613752 613752]]. A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy.<ref>PMID:15024124</ref><ref>PMID:16736098</ref><ref>PMID:19177456</ref><ref>PMID:20852937</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SAHH_HUMAN SAHH_HUMAN]] Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine.<ref>PMID:12590576</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012590576</ref><references group="xtra"/> | <ref group="xtra">PMID:012590576</ref><references group="xtra"/><references/> | ||
[[Category: Adenosylhomocysteinase]] | [[Category: Adenosylhomocysteinase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
