About: Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker

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About: Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

An instance of the biological reaction in Homo sapiens with Reactome ID (R-HSA-4420365)

Attributes	Values
rdf:type	Item
description	biologisch proces (nl) біологічний процес (uk) An instance of the biological reaction in Homo sapiens with Reactome ID (R-HSA-4420365) (en)
exact match	wds:Q50289208-530A68FF-28EC-4BFF-954A-D9B2E7FB0849
exact match	https://identifiers.org/reactome:R-HSA-4420365
cites work	wds:Q50289208-0DBC9BDF-4667-4F4E-8769-1D0C412F9496 wds:Q50289208-0E997BD5-F22C-44F6-B57A-8E5C17B315AF wds:Q50289208-DD775999-7CF0-4792-829D-0257F9850E2C
cites work	Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
rdfs:label	Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker (en)
skos:prefLabel	Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker (en)
name	Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker (en)
instance of	wds:Q50289208-C07BC54A-F557-47B4-A156-965F0DA3BD0F
part of	wds:Q50289208-8961F161-21A4-4DB6-970C-FB8CCB74F6F2
instance of	biological process
part of	Defective B3GALT6 causes EDSP2 and SEMDJL1
has part(s)	wds:Q50289208-4F6E5998-ECFF-45F9-8199-FFB3880174E7 wds:Q50289208-7ED0ED93-29F2-48EC-8713-E710E875C4AC wds:Q50289208-93DC572E-C604-44F3-8299-38B368704403
has part(s)	UDP-D-galactose(2-) Gal-Xyl-proteins [Golgi lumen] B3GALT6 mutants [Golgi membrane]
found in taxon	wds:Q50289208-E8CEBF3D-5167-49D8-9F41-66F1C4E92367
found in taxon	Homo sapiens
Reactome ID	wds:Q50289208-08744AF4-4C6C-4AAA-A396-A616F40EC063
Reactome ID	R-HSA-4420365
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q50289208
is part of of	Gal-Xyl-proteins [Golgi lumen] B3GALT6 mutants [Golgi membrane]
is part of of	wds:Q100147451-C30A1884-7970-402E-A1B7-8BFA1097B53A wds:Q50256435-AFCE7D29-D7C6-46CF-AF58-667D61FFCEE2
is has part(s) of	Defective B3GALT6 causes EDSP2 and SEMDJL1
is has part(s) of	wds:Q45316526-E24A0CF5-2DAB-4C38-9967-566F005501F6

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