Gene: B4GALT7

Alternate names for this Gene: EDSP1|EDSSLA|EDSSPD1|XGALT1|XGPT|XGPT1

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: beta-1,4-galactosyltransferase 7

Type of Gene: protein-coding

rs729460 in B4GALT7 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs121917817 in B4GALT7 gene and EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 PMID 10506123 1999 Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.