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4i3l
From Proteopedia
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| - | + | {{STRUCTURE_4i3l| PDB=4i3l | SCENE= }} | |
| + | ===Crystal structure of a metabolic reductase with 6-benzyl-1-hydroxy-4-methylpyridin-2(1H)-one=== | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/IDHC_HUMAN IDHC_HUMAN]] Defects in IDH1 are involved in the development of glioma (GLM) [MIM:[http://omim.org/entry/137800 137800]]. Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, and ependymomas. Note=Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors. | ||
| - | + | ==About this Structure== | |
| - | + | [[4i3l]] is a 2 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=4I3L OCA]. | |
| - | + | [[Category: Homo sapiens]] | |
| + | [[Category: Anglin, J L.]] | ||
| + | [[Category: Deng, L.]] | ||
| + | [[Category: Jiang, H.]] | ||
| + | [[Category: Liu, Z.]] | ||
| + | [[Category: Prasad, B V.V.]] | ||
| + | [[Category: Song, Y.]] | ||
| + | [[Category: Yao, Y.]] | ||
| + | [[Category: Zheng, B.]] | ||
| + | [[Category: Isocitrate dehydrogenase]] | ||
| + | [[Category: Oxidoreductase-oxidoreductase inhibitor complex]] | ||
Revision as of 06:25, 20 June 2013
Crystal structure of a metabolic reductase with 6-benzyl-1-hydroxy-4-methylpyridin-2(1H)-one
Disease
[IDHC_HUMAN] Defects in IDH1 are involved in the development of glioma (GLM) [MIM:137800]. Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, and ependymomas. Note=Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors.
About this Structure
4i3l is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
