2.4.1.228	malfunction	deletion of A4GALT significantly increases the number of extravasated cells and more clusters are formed as compared with parental cells. The deletion of A4GALT leads to increased cell motility and invasiveness in vitro as well as in vivo, features commonly accompanied with epithelial-to-mesenchymal transition	758994	
2.4.1.228	malfunction	effect of GCS inhibitor DL-threo-1-phenyl-2-palmitoylamino-3-morpholino-1-propanol and multidrug resistance 1/P-glycoprotein, MDR1, pump inhibitor cyclosporin A on expression and cisplatin cytotoxicity. Enzyme inhibition potentiates cisplatin cytotoxicity in H1299 cells and abolishes cell surface globotriaosylceramide (Gb3) expression of resistant cells	736066	
2.4.1.228	malfunction	habitual abortion in a Chinese woman is caused by the synonymous 903C>G mutation in the A4GALT gene. The synonymous mutation of 903C>G in the A4GALT gene causes the p phenotype in P1Pk blood system and it is the in vivo anti-PP1Pk antibody of the patient that causes habitual abortion	759715	
2.4.1.228	malfunction	overexpression of the truncated form of N-methyl-D-asparate-associated protein 1, GRINA-C, and some members of the full-length TMBIM family, including FAS inhibitory molecule 2, reduces Gb3, leading to accumulation of lactosylceramide. The change of glycolipid composition is restored by overexpression of Gb3 synthase, although the mRNA level of Gb3 synthase is unchanged. GRINA-C is associated with Gb3 synthase. Reduction of only the mature form of Gb3 synthase by the expression of GRINA-C is restored by addition of lysosome inhibitors, reduction of Gb3 synthase after overexpression through increased lysosomal degenaration. Phenotypes, overview	722691	
2.4.1.228	malfunction	the inhibitory effect of 1-deoxygalactonojirimycin on alpha-galactosidase A activity causes Gb3 accumulation in G3S/COS-7 cells. Fabry disease is a lysosomal storage disorder caused by an alpha-galactosidase A deficiency and resulting in the accumulation of glycosphingolipids, predominantly globotriaosylceramide	722567	
2.4.1.228	metabolism	single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system	760037	
2.4.1.228	metabolism	the enzyme is responsible for biosynthesis of Gal(alpha1-4)Gal moiety in Gb3 (CD77, Pk antigen) and P1 glycosphingolipids	759315	
2.4.1.228	additional information	overexpression of Gb3 synthase in transgenic TgG3S mice, phenotype, overview. Age-related increase in the kidney Gb3 content in TgG3S(+/-)M(+/-)/KO mice, while neither the Gb3 content in the heart nor the alpha-galactosidase A activity in the heart or kidney change during this time	722567	
2.4.1.228	additional information	the naturally occuring mutation Q211E enables the Gb3/CD77 synthase mutant to synthesize unique globoside (Gb4Cer) NOR derivatives, overview. The NOR antigen appears as a result of the C631G mutation in the gene encoding Gb3/CD77 synthase. Expression of NOR antigen is correlated with expression of the P1 antigen	722791	
2.4.1.228	physiological function	Ceramide increases in response to chemotherapy, leading to proliferation arrest and apoptosis. A tumour stress activation of glucosylceramide synthase follows to eliminate ceramide by formation of glycosphingolipids (GSLs) such as globotriaosylceramide (Gb3), the functional receptor of verotoxin-1	736066