Recombinant Human Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3(B3GAT3)

Code CSB-CF002498HU
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Source in vitro E.coli expression system
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Product Details

Target Names B3GAT3
Uniprot No. O94766
Alternative Names B3GAT3; Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; Beta-1,3-glucuronyltransferase 3; Glucuronosyltransferase I; GlcAT-I; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; GlcUAT-I
Species Homo sapiens (Human)
Expression Region 1-335
Protein Length full length protein
Tag Info The following tags are available.
N-terminal His-tagged
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

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. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation.
Gene References into Functions
  1. We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome. PMID: 28771243
  2. Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart. PMID: 25893793
  3. Reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations. PMID: 21763480
  4. functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif PMID: 12794088
  5. we evaluated the consequences of C-4/C-6 sulfation of Galbeta1-3Gal (Gal2-Gal1) on the activity and specificity of beta1,3-glucuronosyltransferase I PMID: 15522873
  6. GlcAT-I has a role in controlling and reversing articular cartilage defects PMID: 15601778
  7. A comparison of substrate specificity of beta1,3-glucuronosyltransferases revealed that GlcAT-I was selective toward Galbeta1,3Gal, whereas GlcAT-P presented a broader profile. PMID: 17567734
  8. 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis PMID: 18400750

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Involvement in disease Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD)
Subcellular Location Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network.
Protein Families Glycosyltransferase 43 family
Tissue Specificity Ubiquitous (but weakly expressed in all tissues examined).
Database Links

HGNC: 923

OMIM: 245600

KEGG: hsa:26229

STRING: 9606.ENSP00000265471

UniGene: Hs.502759

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