1bx4: Difference between revisions
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{{STRUCTURE_1bx4| PDB=1bx4 | SCENE= }} | {{STRUCTURE_1bx4| PDB=1bx4 | SCENE= }} | ||
===STRUCTURE OF HUMAN ADENOSINE KINASE AT 1.50 ANGSTROMS=== | |||
{{ABSTRACT_PUBMED_9843365}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ADK_HUMAN ADK_HUMAN]] Defects in ADK are the cause of hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:[http://omim.org/entry/614300 614300]]. A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal.<ref>PMID:21963049</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ADK_HUMAN ADK_HUMAN]] ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009843365</ref><references group="xtra"/> | <ref group="xtra">PMID:009843365</ref><references group="xtra"/><references/> | ||
[[Category: Adenosine kinase]] | [[Category: Adenosine kinase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
