B4GALT7 gene

beta-1,4-galactosyltransferase 7

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ehlers-Danlos syndrome progeroid type

From UniProt:

Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA): A variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities. [MIM:130070]

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3

Molecular Location: base pairs 177,600,118 to 177,610,347 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3
  • EDSP1
  • EDSSLA
  • XGALT1
  • XGPT1