B3GALTL Antibody

Code CSB-PA004623
Size US$167Purchase it in Cusabio online store
(only available for customers from the US)
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  • Western Blot analysis of HepG2 cells using β-1,3-Gal-TL Polyclonal Antibody
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Product Details

Uniprot No. Q6Y288
Target Names B3GLCT
Alternative Names B3GLCT antibody; B3GALTL antibody; B3GTLBeta-1,3-glucosyltransferase antibody; Beta3Glc-T antibody; EC 2.4.1.- antibody; Beta 3-glucosyltransferase antibody; Beta-3-glycosyltransferase-like antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Synthesized peptide derived from the C-terminal region of Human β-1,3-Gal-TL.
Immunogen Species Homo sapiens (Human)
Conjugate Non-conjugated
Isotype IgG
Purification Method The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Form Liquid
Tested Applications WB, IHC, ELISA
Recommended Dilution
Application Recommended Dilution
WB 1:500-1:2000
IHC 1:100-1:300
ELISA 1:40000
Protocols Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
ELISA Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
(From Uniprot)
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.
Gene References into Functions
  1. Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL). PMID: 27049305
  2. POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. PMID: 25544610
  3. Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. PMID: 23889335
  4. a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome PMID: 23954224
  5. A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene PMID: 22759511
  6. Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL. PMID: 21671750
  7. The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition. PMID: 21067481
  8. Novel B3GALTL mutation in Peters-plus Syndrome PMID: 19796186
  9. B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs PMID: 12943678
  10. We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR domain. PMID: 16899492
  11. Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome. PMID: 16909395
  12. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.( PMID: 18199743
  13. two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome PMID: 18798333

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Involvement in disease Peters-plus syndrome (PPLS)
Subcellular Location Endoplasmic reticulum membrane, Single-pass type II membrane protein
Protein Families Glycosyltransferase 31 family
Tissue Specificity Widely expressed, with highest levels in testis and uterus.
Database Links

HGNC: 20207

OMIM: 261540

KEGG: hsa:145173

STRING: 9606.ENSP00000343002

UniGene: Hs.13205

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