Xylosyl- and glucuronyltransferase LARGE1

Summary
UniProt ID
O95461
Gene Symbol
  • KIAA0609
  • LARGE
  • LARGE1
Gene ID
9215
Organism
Homo sapiens (human)
GlyGen
O95461
PubChem
O95461
Re-Glyco
O95461
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 2 entries
Pathway Name Organism
Defective LARGE causes MDDGA6 and MDDGB6 Homo sapiens
O-linked glycosylation Homo sapiens
Disease
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110637 muscular dystrophy-dystroglycanopathy type B6
DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025