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GNE - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
- Synonym(s) : bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, Uae1
- Previous symbols and names : IBM2, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannos
amine kinase - Type : gene with protein product
- Chromosomal location : 9p13.3
- OMIM: 603824
- HGNC: 23657
- UniProtKB: Q9Y223
- Genatlas: GNE
- GenCC: GNE
- Ensembl: ENSG00000159921
- IUPHAR-DB: -
- Reactome: Q9Y223
- LOVD: GNE
Diseases list
- Disease-causing germline mutation(s) in GNE myopathy
ORPHA:602 
- Disease-causing germline mutation(s) in Severe autosomal recessive macrothrombocytopenia
ORPHA:438207 - Disease-causing germline mutation(s) in Sialuria
ORPHA:3166
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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