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B4GALT7 is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member 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 which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome.
Gene Name: | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 |
Synonyms: | B4GALT7, Beta-1,4-GalTase 7, Beta4Gal-T7, Galactosyltransferase I, XGALT-1, XGALT1, XGPT1, B4Gal-T7, Beta4GalT-VII |
Target Sequences: | NM_007255 NP_009186.1 Q9UBV7 |
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