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The protein encoded by A4GALT catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system.
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Study reports a novel mutation in the A4GALT gene that was responsible for a p phenotype in a Chinese individual.
Mutation in the A4GALT gene is associated with rare p phenotype in P1Pk blood group (show DARC Proteins) system.
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
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.
P1-decorated PSGL-1 (show SELPLG Proteins)/mIgG2b bound with high avidity to both Stx1 (show STX1A Proteins) and Stx2 (show STX2 Proteins), and as such constitutes a potential therapeutic inhibitor of these toxins.
Results suggest that the C631G mutation alters the acceptor specificity of Gb3/CD77 synthase, rendering it able to catalyze synthesis of the Gal (show GAL Proteins)(alpha1-4)Gal (show GAL Proteins) and Gal (show GAL Proteins)(alpha1-4)GalNAc moieties.
Increased globotriaosylceramide levels are detected in a transgenic mouse expressing human alpha1,4-galactosyltransferase (show GGTA1 Proteins) in a mouse model for treating Fabry disease.
Data showed that GRINA-C was associated with Gb3 synthase (show PK Proteins), and may demonstrate a new type of posttranscriptional regulation of glycosyltransferases.
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.
We established by quantitative real-time PCR that both fresh colonic epithelial sections and HCT-8 cells express Gb3 synthase (show PK Proteins) mRNA and the alternate Shiga toxin receptor globotetraosylceramide.
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor.
, GB3 synthase
, P blood group (P one antigen)
, P(k) antigen synthase
, P1/Pk synthase
, UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase
, globotriaosylceramide synthase
, lactosylceramide 4-alpha-galactosyltransferase
, Gb3 synthase
, Gb3/CD77 synthase
, alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)