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New page: ==Mouse Galactocerebrosidase complexed with dideoxy-imino-lyxitol DIL== <StructureSection load='4ufk' size='340' side='right' caption='4ufk, resolution 2.40Å' scen... |
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Revision as of 17:12, 26 March 2015
Mouse Galactocerebrosidase complexed with dideoxy-imino-lyxitol DILMouse Galactocerebrosidase complexed with dideoxy-imino-lyxitol DIL
Structural highlights
Disease[GALC_MOUSE] Defects in Galc are the cause of the 'twitcher' phenotype; an autosomal recessive leukodystrophy similar to the human disease (Krabbe disease). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Function[GALC_MOUSE] Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.[1] References
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