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Literature summary for 2.4.1.228 extracted from

  • Shiozuka, C.; Taguchi, A.; Matsuda, J.; Noguchi, Y.; Kunieda, T.; Uchio-Yamada, K.; Yoshioka, H.; Hamanaka, R.; Yano, S.; Yokoyama, S.; Mannen, K.; Kulkarni, A.B.; Furukawa, K.; Ishii, S.
    Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease (2011), J. Biochem., 149, 161-170.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expression of Gb3 synthase in transgenic TgG3S mice, and overexpression in COS-7 cells Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
heart
-
Homo sapiens
-
kidney
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
A4GalT
-
Homo sapiens
alpha1,4-galactosyltransferase
-
Homo sapiens
GB3 synthase
-
Homo sapiens

General Information

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