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Human Polyclonal B3GALT6 Primary Antibody for IF, WB - ABIN1327437
Malfait, Kariminejad, Van Damme, Gauche, Syx, Merhi-Soussi, Gulberti, Symoens, Vanhauwaert, Willaert, Bozorgmehr, Kariminejad, Ebrahimiadib, Hausser, Huysseune, Fournel-Gigleux, De Paepe: Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. in American journal of human genetics 2013
Human Monoclonal B3GALT6 Primary Antibody for ELISA, WB - ABIN530579
Dziedzic, Wegrzyn, Jakóbkiewicz-Banecka: Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. in European journal of human genetics : EJHG 2010
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