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 Sphingolipid metabolism and Keratan sulfate/keratin metabolism. 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).