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LARGE1 - LARGE xylosyl- and glucuronyltransferase 1
- Synonym(s) : KIAA0609, like-acetylglucosaminyltransferase
- Previous symbols and names : LARGE, like-glycosyltransferase
- Type : gene with protein product
- Chromosomal location : 22q12.3
- OMIM: 603590
- HGNC: 6511
- UniProtKB: O95461
- Genatlas: LARGE
- Ensembl: ENSG00000133424
- IUPHAR-DB: -
- Reactome: O95461
- LOVD: LARGE1
Diseases list
- Disease-causing germline mutation(s) in Congenital muscular dystrophy with intellectual disability
- Disease-causing germline mutation(s) in Walker-Warburg syndrome
- Candidate gene tested in Muscle-eye-brain disease
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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