- Gene Overview
- Interaction Network
- Sequence Verification
B4GALT7, beta-1,4-galactosyltransferase 7
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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]
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Gene Synonyms (beta-1,4-galactosyltransferase 7, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7, UDP-galactose:beta-xylose beta-1,4-galactosyltransferase, beta-1,4-GalTase 7, beta-1,4-galactosyltransferase VII, beta4Gal-T7, beta4GalT-VII, galactosyltransferase I, proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I, xylosylprotein 4-beta-galactosyltransferase, xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7, xylosylprotein beta-1,4-galactosyltransferase, EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1,)
- NCBI Gene ID:
11285
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>Q9UBV7
UNIPROT ID#>>B3KMT1
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
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beta-1,4-galactosyltransferase 7 interacts with:
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