Aliases for B4GALT6 Gene
- Beta-1,4-Galactosyltransferase 6 2 3 4 5
- UDP-Gal:Glucosylceramide Beta-1,4-Galactosyltransferase 2 3 4
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 6 3 4
- UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 6 2 3
- UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 6 3 4
- Glucosylceramide Beta-1,4-Galactosyltransferase 3 4
- Lactosylceramide Synthase 3 4
External Ids for B4GALT6 Gene
Previous GeneCards Identifiers for B4GALT6 Gene
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
GeneCards Summary for B4GALT6 Gene
B4GALT6 (Beta-1,4-Galactosyltransferase 6) is a Protein Coding gene. Diseases associated with B4GALT6 include Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT5.
UniProtKB/Swiss-Prot Summary for B4GALT6 Gene
Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity).