A4GALT Antibody

1. The differential binding of transcription factor early growth response 1 to the SNP rs5751348 genomic region with the different genotypes in the A4GALT gene leads to differential activation of P(1) -A4GALT and P(2) -A4GALT expression. PMID: 29399809
2. A4GALT SNPs spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system PMID: 29709005
3. Study reports a novel mutation in the A4GALT gene that was responsible for a p phenotype in a Chinese individual. PMID: 27612185
4. amino acid residue at position 211 of Gb3/CD77 synthase is critical for specificity and activity of the enzyme involved in formation of P(k), P1 and NOR antigens. Altogether, this approach affords a new insight into the mechanism of action of the human Gb3/CD77 synthase. PMID: 27538840
5. This is the first direct biochemical evidence that Gb3/CD77 synthase is able to synthesize two different glycosphingolipid antigens: P(k) and P1, and when p.Q211E substitution is present, the NOR antigen is also synthesized. PMID: 26773500
6. Mutation in the A4GALT gene is associated with rare p phenotype in P1Pk blood group system. PMID: 25863098
7. The results of this investigation demonstrate a consistent association of A4GALT SNPs rs2143918 and rs5751348 with the P1/P2 phenotypes and suggest that SNP rs5751348 may lead to allelic variations in A4GALT gene expression PMID: 25041587
8. these data elucidate a new explanation underlying the p phenotype, implicating the deleted regions of A4GALT as crucial for P1 and P(k) synthesis, possibly due to loss of binding sites for erythroid transcription factors. PMID: 24417201
9. P1-decorated PSGL-1/mIgG2b bound with high avidity to both Stx1 and Stx2, and as such constitutes a potential therapeutic inhibitor of these toxins. PMID: 24082034
10. several P1PK-null alleles were identified. PMID: 23927681
11. Results suggest that the C631G mutation alters the acceptor specificity of Gb3/CD77 synthase, rendering it able to catalyze synthesis of the Gal(alpha1-4)Gal and Gal(alpha1-4)GalNAc moieties. PMID: 22965229
12. Increased globotriaosylceramide levels are detected in a transgenic mouse expressing human alpha1,4-galactosyltransferase in a mouse model for treating Fabry disease. PMID: 20961863
13. 2 Taiwanese individuals with p phenotype were homozygous for a & 428. No expression of P(k) & no enzyme activity were observed in cells transfected with the mutant construct. PMID: 21092013
14. Total urinary protein isoforms of globotriaosylceramide were used to identify Fabry disease in women. PMID: 21186071
15. Data showed that GRINA-C was associated with Gb3 synthase, and may demonstrate a new type of posttranscriptional regulation of glycosyltransferases. PMID: 20837469
16. of A4GALT mRNA in cultured human bone marrow cells revealed novel transcripts containing only the noncoding exon 1 and a sequence (here termed exon 2a) from intron 1. PMID: 20971946
17. We established by quantitative real-time PCR that both fresh colonic epithelial sections and HCT-8 cells express Gb3 synthase mRNA and the alternate Shiga toxin receptor globotetraosylceramide. PMID: 20732996
18. expression in megakaryoblastic leukemia cells PMID: 11782470
19. The P blood group phenotype is due to several disctint nonfunctional alleles of A4GALT without any predominant allele. PMID: 11896312
20. results strongly suggested that P1 synthase is identical to Gb3/CD77 synthase PMID: 12888565
21. Data show that a novel A4GALT missense mutation causes the p phenotype in Amish individuals. PMID: 18067504
22. the transcriptional regulation of the Gb3S gene by Sp1 might affect the verotoxin sensitivity of endothelial cell and Hemolytic uremic syndrome progression. PMID: 18757779
23. P(k) expression strongly influences susceptibility to HIV-1 infection, which implicates P(k) as a new endogenous cell-surface factor that may provide protection against HIV-1 infection. PMID: 19139081
24. These data show that globotriaosylceramide (Gb3) content, which is regulated by the expression of Gb3 synthase, determines the sensitivity of HeLa cells toward Shiga toxin. PMID: 19470247

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HGNC: 18149

OMIM: 111400

KEGG: hsa:53947

STRING: 9606.ENSP00000249005

UniGene: Hs.105956