4cce: Difference between revisions
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{{STRUCTURE_4cce| PDB=4cce | SCENE= }} | |||
===STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH GALACTOSE: ENZYME- PRODUCT 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== | |||
[[4cce]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4CCE 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: Enzyme-product complex]] | |||
[[Category: Glycosyl hydrolase]] | |||
[[Category: Hydrolase]] | |||
[[Category: Krabbe disease]] | |||
[[Category: Lysosomal storage disease]] | |||