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{{STRUCTURE_4ccc| PDB=4ccc | SCENE= }} | |||
===STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH 4NBDG: ENZYME-SUBSTRATE COMPLEX=== | |||
{{ABSTRACT_PUBMED_24297913}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/GALC_MOUSE 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== | |||
[[http://www.uniprot.org/uniprot/GALC_MOUSE 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.<ref>PMID:8769874</ref> | |||
==About this Structure== | |||
[[4ccc]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4CCC OCA]. | |||
==Reference== | |||
<ref group="xtra">PMID:024297913</ref><references group="xtra"/><references/> | |||
[[Category: Galactosylceramidase]] | |||
[[Category: Deane, J E.]] | |||
[[Category: Graham, S C.]] | |||
[[Category: Hill, C H.]] | |||
[[Category: Read, R J.]] | |||
[[Category: 4-nitrophenyl-beta-d-galactopyranoside]] | |||
[[Category: Enzyme- substrate complex]] | |||
[[Category: Glycosyl hydrolase]] | |||
[[Category: Hydrolase]] | |||
[[Category: Krabbe disease]] | |||
[[Category: Lysosomal storage disease]] | |||
Revision as of 16:40, 11 December 2013
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH 4NBDG: ENZYME-SUBSTRATE COMPLEXSTRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH 4NBDG: ENZYME-SUBSTRATE COMPLEX
Template:ABSTRACT PUBMED 24297913
DiseaseDisease
[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.
FunctionFunction
[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]
About this StructureAbout this Structure
4ccc is a 1 chain structure. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ Hill CH, Graham SC, Read RJ, Deane JE. Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease. Proc Natl Acad Sci U S A. 2013 Dec 2. PMID:24297913 doi:http://dx.doi.org/10.1073/pnas.1311990110
- ↑ Sakai N, Inui K, Tatsumi N, Fukushima H, Nishigaki T, Taniike M, Nishimoto J, Tsukamoto H, Yanagihara I, Ozono K, Okada S. Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. J Neurochem. 1996 Mar;66(3):1118-24. PMID:8769874