3b3l: Difference between revisions
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{{STRUCTURE_3b3l| PDB=3b3l | SCENE= }} | {{STRUCTURE_3b3l| PDB=3b3l | SCENE= }} | ||
===Crystal structures of alternatively-spliced isoforms of human ketohexokinase=== | ===Crystal structures of alternatively-spliced isoforms of human ketohexokinase=== | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/KHK_HUMAN KHK_HUMAN]] Defects in KHK are the cause of fructosuria (FRUCT) [MIM:[http://omim.org/entry/229800 229800]]. Benign defect of intermediary metabolism.<ref>PMID:19237742</ref><ref>PMID:7833921</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Ketohexokinase|Ketohexokinase]] | *[[Ketohexokinase|Ketohexokinase]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ketohexokinase]] | [[Category: Ketohexokinase]] | ||
Revision as of 08:59, 24 March 2013
Crystal structures of alternatively-spliced isoforms of human ketohexokinase
Disease
[KHK_HUMAN] Defects in KHK are the cause of fructosuria (FRUCT) [MIM:229800]. Benign defect of intermediary metabolism.[1][2]
About this Structure
3b3l is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- ↑ Trinh CH, Asipu A, Bonthron DT, Phillips SE. Structures of alternatively spliced isoforms of human ketohexokinase. Acta Crystallogr D Biol Crystallogr. 2009 Mar;65(Pt 3):201-11. Epub 2009, Feb 20. PMID:19237742 doi:S0907444908041115
- ↑ Bonthron DT, Brady N, Donaldson IA, Steinmann B. Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Hum Mol Genet. 1994 Sep;3(9):1627-31. PMID:7833921
