Cloned (Comment) | Organism |
---|---|
expression of Gb3 synthase in transgenic TgG3S mice, and overexpression in COS-7 cells | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
heart | - |
Homo sapiens | - |
kidney | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
A4GalT | - |
Homo sapiens |
alpha1,4-galactosyltransferase | - |
Homo sapiens |
GB3 synthase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
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 | Homo sapiens |
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 | Homo sapiens |