Mouse Anti-B3GALT6 Recombinant Antibody (3E5) (CBMAB-A0684-LY)

The product is antibody recognizes B3GALT6. The antibody 3E5 immunoassay techniques such as: WB, ELISA.
See all B3GALT6 antibodies

Published Data

Fig. 1 Western blot

Datasheet

Summary

Host Animal

Mouse

Specificity

Human

Clone

3E5

Antibody Isotype

IgG2a, κ

Application

WB, ELISA

Basic Information

Immunogen

B3GALT6 (NP_542172, 229 a.a. ~ 329 a.a) partial recombinant protein with GST tag.

Specificity

Human

Antibody Isotype

IgG2a, κ

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format

Liquid

Buffer

PBS, pH 7.4

Preservative

None

Concentration

Batch dependent

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name

UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6

Entrez Gene ID

126792

UniProt ID

Q96L58

Alternative Names

beta3GalT6

Function

Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.

Biological Process

Chondroitin sulfate biosynthetic process Source: UniProtKB-UniPathway
Glycosaminoglycan biosynthetic process Source: UniProtKB
Glycosaminoglycan metabolic process Source: Reactome
Heparan sulfate proteoglycan biosynthetic process Source: UniProtKB-UniPathway
Protein glycosylation Source: InterPro
Proteoglycan biosynthetic process Source: UniProtKB

Cellular Location

Golgi stack membrane

Involvement in disease

Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2): A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.
Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1): A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.
Al-Gazali syndrome (ALGAZ): A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance.

Topology

Cytoplasmic: 1-11 aa
Helical: 12-34 aa
Lumenal: 35-329 aa

References

Delbaere, S., De Clercq, A., Mizumoto, S., Noborn, F., Bek, J. W., Alluyn, L., ... & Malfait, F. (2020). b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region. Frontiers in cell and developmental biology, 8, 1524.

Caraffi, S. G., Maini, I., Ivanovski, I., Pollazzon, M., Giangiobbe, S., Valli, M., ... & Garavelli, L. (2019). severe peripheral joint laxity is a distinctive clinical feature of Spondylodysplastic-Ehlers-danlos syndrome (EDS)-B4GALT7 and spondylodysplastic-EDS-B3GALT6. Genes, 10(10), 799.

Ben‐Mahmoud, A., Ben‐Salem, S., Al‐Sorkhy, M., John, A., Ali, B. R., & Al‐Gazali, L. (2018). A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations. Clinical genetics, 93(6), 1148-1158.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Associated Products

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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SDS
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