Aliases for B3GALT6 Gene
External Ids for B3GALT6 Gene
Previous GeneCards Identifiers for B3GALT6 Gene
The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
GeneCards Summary for B3GALT6 Gene
B3GALT6 (UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase Polypeptide 6) is a Protein Coding gene. Diseases associated with B3GALT6 include spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures and ehlers-danlos syndrome, progeroid type, 2. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity and galactosylxylosylprotein 3-beta-galactosyltransferase activity. An important paralog of this gene is B3GALNT2.
UniProtKB/Swiss-Prot for B3GALT6 Gene
Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.