Literature summary for 2.4.1.133 extracted from

Goette, M.; Spillmann, D.; Yip, G.W.; Versteeg, E.; Echtermeyer, F.G.; van Kuppevelt, T.H.; Kiesel, L.
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome (2008), Hum. Mol. Genet., 17, 996-1009.

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
skin fibroblast	from an Ehlers-Danlos syndrome patient carrying the C808T mutation in the beta4GalT-7 gene, and skin fibroblasts from a healthy age-matched donor. The reduction in galactosyltransferase activity caused by the R270C substitution in beta4GalT-7 leads to a reduction in the sulfation degree of heparan sulfate. The structural alterations, which were particularly prominent for cell-associated heparan sulfate, are paralleled by significantly delayed wound closure in vitro, increased adhesion to fibronectin, a reduced capability to form actin stress fibers, filopodia and collagen gel-contracting forces	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
beta4-galactosyltransferase 7	-	Homo sapiens
beta4GalT-7	-	Homo sapiens

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Release 2023.1 (January 2023)