Human Recombinant B3GALTL protein, His Tag (V2LY-0526-LY2231)

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Basic Information

Expressed Host
HEK293 Cells
Protein Species
Human
Tag
His Tag
Protein Construction
This product is Human Recombinant B3GALTL protein, His Tag consist of Amino Acid: 29-494 and predicts a molecular mass of 55.4 kDa.
Molecule Mass
55.4 kDa
Sequence
Amino Acid: 29-494
Species
Human

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity
>95% as determined by SDS-PAGE
Endotoxin
Please contact us for more information.
Format
Lyophilized
Reconstitution
Allow the vial and reconstitution buffer to equilibrate to room temperature. Briefly centrifuge or tap down the vial to ensure that all lyophilized powder is collected at the bottom of the vial. For the reconstitution of this product, we recommend adding PBS or sterile water to achieve a final antibody concentration of 1 mg/mL. Allow the vial to reconstitute for 10-15 minutes at room temperature with gentle agitation. Avoid vigorous shaking that can cause foaming and antibody denaturation. Aliquot into volumes based on your experiment and store liquid protein at -20°C or -80°C for long time.
Buffer
Lyophilized from sterile PBS
Preservative
None
Storage
Samples are stable for up to twelve months from date of receipt at -20°C to -80°C. Store it under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
More Infomation

Target

Full Name
Beta 3-Glucosyltransferase
Function
O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.
Biological Process
Fucose metabolic process Source: UniProtKB-KW
Protein O-linked fucosylation Source: Reactome
Cellular Location
Endoplasmic reticulum membrane
Involvement in disease
Peters-plus syndrome (PTRPLS): An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.
Topology
Cytoplasmic: 1-6 aa
Helical: 7-27 aa
Lumenal: 28-498 aa

Zhang, A., Venkat, A., Taujale, R., Mull, J. L., Ito, A., Kannan, N., & Haltiwanger, R. S. (2021). Peters plus syndrome mutations affect the function and stability of human β1, 3-glucosyltransferase. Journal of Biological Chemistry, 100843.

Thu, C. T., Chung, J. Y., Dhawan, D., Vaiana, C. A., & Mahal, L. K. (2021). High-Throughput miRFluR Platform Identifies miRNA Regulating B3GLCT That Predict Peters’ Plus Syndrome Phenotype, Supporting the miRNA Proxy Hypothesis. ACS Chemical Biology.

Thu, C. T., Chung, J. Y., Dhawan, D., Vaiana, C. A., & Mahal, L. K. (2021). High-throughput analysis of B3GLCT regulation predicts phenotype of Peters' Plus Syndrome in line with the miRNA Proxy Hypothesis. bioRxiv.

Neupane, S., Goto, J., Berardinelli, S. J., Ito, A., Haltiwanger, R. S., & Holdener, B. C. (2021). Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ. Glycobiology.

Totoń-Żurańska, J., Kapusta, P., Rybak-Krzyszkowska, M., Lorenc, K., Machlowska, J., Skalniak, A., ... & Wołkow, P. P. (2019). Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining. International journal of molecular sciences, 20(23), 6006.

Holdener, B. C., Percival, C. J., Grady, R. C., Cameron, D. C., Berardinelli, S. J., Zhang, A., ... & Haltiwanger, R. S. (2019). ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. Human molecular genetics, 28(24), 4053-4066.

Weh, E., Takeuchi, H., Muheisen, S., Haltiwanger, R. S., & Semina, E. V. (2017). Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. PloS one, 12(9), e0184903.

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For research use only. Not intended for any clinical use.

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