Structural highlights
Disease
B4GN1_HUMAN Autosomal recessive spastic paraplegia type 26. The disease is caused by variants affecting the gene represented in this entry.
Function
B4GN1_HUMAN Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.[1] [2] [3]
References
- ↑ Nagata Y, Yamashiro S, Yodoi J, Lloyd KO, Shiku H, Furukawa K. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. J Biol Chem. 1992 Jun 15;267(17):12082-9 PMID:1601877
- ↑ Ruan S, Raj BK, Furukawa K, Lloyd KO. Analysis of melanoma cells stably transfected with beta 1,4GalNAc transferase (GM2/GD2 synthase) cDNA: relative glycosyltransferase levels play a dominant role in determining ganglioside expression. Arch Biochem Biophys. 1995 Oct 20;323(1):11-8. PMID:7487055 doi:10.1006/abbi.1995.0003
- ↑ Yamashiro S, Haraguchi M, Furukawa K, Takamiya K, Yamamoto A, Nagata Y, Lloyd KO, Shiku H, Furukawa K. Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase in vitro and in cDNA-transfected cells. GM2/GD2 synthase efficiently generates asialo-GM2 in certain cells. J Biol Chem. 1995 Mar 17;270(11):6149-55. PMID:7890749 doi:10.1074/jbc.270.11.6149
