Aliases for B4GALT7 Gene
- Beta-1,4-Galactosyltransferase 7 2 3
- Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7 2 3 5
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 7 3 4
- UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 7 3 4
- Galactosyltransferase I 2 3
- Beta-1,4-GalTase 7 3 4
- Beta4Gal-T7 3 4
- XGALT1 3 4
External Ids for B4GALT7 Gene
Previous GeneCards Identifiers for B4GALT7 Gene
This gene 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. [provided by RefSeq, Oct 2009]
GeneCards Summary for B4GALT7 Gene
B4GALT7 (Beta-1,4-Galactosyltransferase 7) is a Protein Coding gene. Diseases associated with B4GALT7 include ehlers-danlos syndrome, progeroid type, 1 and ehlers-danlos syndrome progeroid type. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT2.
UniProtKB/Swiss-Prot for B4GALT7 Gene
Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.