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ST3GAL3 - ST3 beta-galactoside alpha-2,3-sialyltransferase 3
- Synonym(s) : 'N-acetyllactosaminide alpha-2,3-sialyltransferase', ST3Gal III
- Previous symbols and names : MRT12, SIAT6, mental retardation, non-syndromic, autosomal recessive, 12, sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase), sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)
- Type : gene with protein product
- Chromosomal location : 1p34.1
- OMIM: 606494
- HGNC: 10866
- UniProtKB: Q11203
- Genatlas: ST3GAL3
- GenCC: ST3GAL3
- Ensembl: ENSG00000126091
- IUPHAR-DB: -
- Reactome: Q11203
- LOVD: ST3GAL3
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive non-syndromic intellectual disability
ORPHA:88616 - Disease-causing germline mutation(s) in Infantile spasms syndrome
ORPHA:3451

Additional information
Patient-centred resources for this gene
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