Aliases for B4GALT7 Gene
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 (Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7) is a Protein Coding gene. Diseases associated with B4GALT7 include ehlers-danlos syndrome, progeroid type, 1 and reunion island's larsen syndrome. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include galactosyltransferase activity and xylosylprotein 4-beta-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.