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Summary Expression Expr. PhenotypesPheno. Gene Literature (1)Lit. (1) GO Terms (89)GO (89) Nucleotides (59)Nucl. (59) Proteins (37)Prot. (37) Interactants (32)Interact. (32) Wiki
XB-GENEPAGE-6250445
???displayGene.symbol???:
 large1

???displayGene.name???: 
LARGE xylosyl- and glucuronyltransferase 1

???displayGene.synonyms???
large , LOC108704366 , LOC108712551 , mdc1d ( Nomenclature history )

???displayGene.geneFunction???
Predicted glycosyltransferase

AI Protein Function :
large1 encodes a Golgi‑localized glycosyltransferase that adds xylose‑glucuronic acid repeats to α‑dystroglycan for proper O‑mannosyl glycosylation, and is required for muscle fiber formation, cardiac ...[+]


InterPro :
Glyco trans 8, Nucleotide-diphossugar trans, Xyl/GlcA transferase

???displayGene.geneInteractants???
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Diseases: 


Disease Ontology:
Walker-Warburg syndrome [+]

MIM:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEV [+]

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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