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Gene : B4GALT7 Homo sapiens

Name  ? beta-1,4-galactosyltransferase 7 Cytological Location  5q35.3
Brief Description  beta-1,4-galactosyltransferase 7
Description  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]
  • synonyms:
  • XGPT1,
  • XGALT1,
  • B4GALT7,
  • HGNC:930,
  • NM_007255,
  • XGALT-1,
  • galactosyltransferase I,
  • xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,
  • OTTHUMG00000130851,
  • EDSP1,
  • AB028600,
  • XGPT,
  • EDSSPD1,
  • beta4Gal-T7,
  • uc003mhy.4
  • identifiers:
  • 11285,
  • ENSG00000027847,
  • B4GALT7

Genome feature

Region: gene ? Length: 10229  
Location: 5:177600102-177610330 Cyto location: 5q35.3

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1 Diseases

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3740 SNPs

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results