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B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1.
Genetic association between B3GALT6 and Ehlers-Danlos-syndrome-like connective tissue disorder in 3 families.
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 (By similarity).
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
, beta-1,3-galactosyltransferase 6
, GAG GalTII
, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6
, beta-1,3-GalTase 6
, galactosyltransferase II
, galactosylxylosylprotein 3-beta-galactosyltransferase