Galactosylceramidase
From Proteopedia
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<StructureSection load='3zr5' size='340' side='right' caption='Galactosylceramidase scene=''> | <StructureSection load='3zr5' size='340' side='right' caption='Galactosylceramidase scene=''> | ||
| - | Galactosylceramidase is a hydrolase <ref>DOI:10.2210/pdb3zr5/pdb</ref> ( | + | Galactosylceramidase is a hydrolase <ref>DOI:10.2210/pdb3zr5/pdb</ref> ('''fix reference''') that removes galactose from ceramide derivatives ('''reference'''). Galactosylceramidase in humans is encoded by the gene GALC, and mutations in this gene are associated with Krabbe disease, or globoid cell leukodystrophy <ref>PMID: 21876145</ref>. |
==Structure== | ==Structure== | ||
Revision as of 22:24, 2 June 2014
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References
- ↑ doi: https://dx.doi.org/10.2210/pdb3zr5/pdb
- ↑ Deane JE, Graham SC, Kim NN, Stein PE, McNair R, Cachon-Gonzalez MB, Cox TM, Read RJ. Insights into Krabbe disease from structures of galactocerebrosidase. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15169-73. Epub 2011 Aug 29. PMID:21876145 doi:10.1073/pnas.1105639108
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