1bx4
From Proteopedia
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{{STRUCTURE_1bx4| PDB=1bx4 | SCENE= }} | {{STRUCTURE_1bx4| PDB=1bx4 | SCENE= }} | ||
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===STRUCTURE OF HUMAN ADENOSINE KINASE AT 1.50 ANGSTROMS=== | ===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> | ||
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| + | ==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]] | ||
Revision as of 03:45, 25 March 2013
Contents |
STRUCTURE OF HUMAN ADENOSINE KINASE AT 1.50 ANGSTROMS
Template:ABSTRACT PUBMED 9843365
Disease
[ADK_HUMAN] Defects in ADK are the cause of hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM: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.[1]
Function
[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
1bx4 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Mathews II, Erion MD, Ealick SE. Structure of human adenosine kinase at 1.5 A resolution. Biochemistry. 1998 Nov 10;37(45):15607-20. PMID:9843365 doi:10.1021/bi9815445
- ↑ Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Dobeln U, Gustafsson CM, Lundeberg J, Wedell A. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub, 2011 Sep 28. PMID:21963049 doi:10.1016/j.ajhg.2011.09.004
