3cu0: Difference between revisions
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{{STRUCTURE_3cu0| PDB=3cu0 | SCENE= }} | {{STRUCTURE_3cu0| PDB=3cu0 | SCENE= }} | ||
===human beta 1,3-glucuronyltransferase I (GlcAT-I) in complex with UDP and GAL-GAL(6-SO4)-XYL(2-PO4)-O-SER=== | |||
{{ABSTRACT_PUBMED_18400750}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/B3GA3_HUMAN B3GA3_HUMAN]] Defects in B3GAT3 are the cause of multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:[http://omim.org/entry/245600 245600]]. An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects.<ref>PMID:21763480</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/B3GA3_HUMAN B3GA3_HUMAN]] Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018400750</ref><references group="xtra"/> | <ref group="xtra">PMID:018400750</ref><references group="xtra"/><references/> | ||
[[Category: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase]] | [[Category: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
